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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View MT 3796 3796 A > G MT-ND1 ENST00000361390.2:c.490A>G
ENSP00000354687.2:p.Thr164Ala
87/10483 0.00782 4 ClinVar pathogenic variant Likely Benign
View MT 3796 3796 A > T MT-ND1 ENST00000361390.2:c.490A>T
ENSP00000354687.2:p.Thr164Ser
27/10482 0.00253 4 mitochondrial_gene_context Likely Benign
View MT 3843 3843 A > G MT-ND1 ENST00000361390.2:c.537A>G
ENSP00000354687.2:p.Trp179=
28/10482 0.00262 4 mitochondrial_gene_context Likely Benign
View MT 3849 3849 G > A MT-ND1 ENST00000361390.2:c.543G>A
ENSP00000354687.2:p.Leu181=
41/10483 0.00362 4 mitochondrial_gene_context Likely Benign
View MT 4023 4023 T > C MT-ND1 ENST00000361390.2:c.717T>C
ENSP00000354687.2:p.Thr239=
15/10482 0.00134 3 mitochondrial_gene_context Likely Benign
View MT 4048 4048 G > A MT-ND1 ENST00000361390.2:c.742G>A
ENSP00000354687.2:p.Asp248Asn
37/10483 0.00329 4 non_synonymous Likely Benign
View MT 4117 4117 T > C MT-ND1 ENST00000361390.2:c.811T>C
ENSP00000354687.2:p.Leu271=
10/10482 0.00081 4 mitochondrial_gene_context Likely Benign
View MT 4137 4137 C > T MT-ND1 ENST00000361390.2:c.831C>T
ENSP00000354687.2:p.Tyr277=
3/10482 0.00029 4 mitochondrial_gene_context Likely Benign
View MT 4218 4218 T > C MT-ND1 ENST00000361390.2:c.912T>C
ENSP00000354687.2:p.Tyr304=
36/10482 0.00334 4 mitochondrial_gene_context Likely Benign
View MT 4219 4219 G > A MT-ND1 ENST00000361390.2:c.913G>A
ENSP00000354687.2:p.Val305Ile
6/10482 0.00052 4 mitochondrial_gene_context Likely Benign
View MT 4371 4371 T > C MT-TQ ENST00000387372.1:n.30A>G
4/10482 0.00038 4 mitochondrial_gene_context Likely Benign
View MT 4418 4418 T > C MT-TM ENST00000387377.1:n.17T>C
57/10482 0.00515 4 mitochondrial_gene_context Likely Benign
View MT 4688 4688 T > C MT-ND2 ENST00000361453.3:c.219T>C
ENSP00000355046.4:p.Ala73=
63/10482 0.00539 4 mitochondrial_gene_context Likely Benign
View MT 4733 4733 T > C MT-ND2 ENST00000361453.3:c.264T>C
ENSP00000355046.4:p.Asn88=
41/10482 0.00382 4 mitochondrial_gene_context Likely Benign
View MT 4823 4823 T > C MT-ND2 ENST00000361453.3:c.354T>C
ENSP00000355046.4:p.Val118=
42/10482 0.00358 4 mitochondrial_gene_context Likely Benign
View MT 5033 5033 A > G MT-ND2 ENST00000361453.3:c.564A>G
ENSP00000355046.4:p.Gly188=
1/10482 0.0001 4 mitochondrial_gene_context Likely Benign
View MT 5177 5177 G > A MT-ND2 ENST00000361453.3:c.708G>A
ENSP00000355046.4:p.Lys236=
8/10482 0.00067 4 mitochondrial_gene_context Likely Benign
View MT 5178 5178 C > A MT-ND2 ENST00000361453.3:c.709C>A
ENSP00000355046.4:p.Leu237Met
89/10483 0.00797 4 non_synonymous Likely Benign
View MT 5198 5198 A > G MT-ND2 ENST00000361453.3:c.729A>G
ENSP00000355046.4:p.Leu243=
70/10483 0.00634 4 mitochondrial_gene_context Likely Benign
View MT 5553 5553 T > C MT-TW ENST00000387382.1:n.42T>C
11/10482 0.001 4 mitochondrial_gene_context Likely Benign
View MT 5911 5911 C > T MT-CO1 ENST00000361624.2:c.8C>T
ENSP00000354499.2:p.Ala3Val
6/10482 0.00057 4 non_synonymous Likely Benign
View MT 5951 5951 A > G MT-CO1 ENST00000361624.2:c.48A>G
ENSP00000354499.2:p.Gly16=
83/10482 0.00758 4 mitochondrial_gene_context Likely Benign
View MT 6071 6071 T > C MT-CO1 ENST00000361624.2:c.168T>C
ENSP00000354499.2:p.Val56=
91/10482 0.00825 4 mitochondrial_gene_context Likely Benign
View MT 6249 6249 G > A MT-CO1 ENST00000361624.2:c.346G>A
ENSP00000354499.2:p.Ala116Thr
4/10482 0.00038 4 non_synonymous Likely Benign
View MT 6260 6260 G > A MT-CO1 ENST00000361624.2:c.357G>A
ENSP00000354499.2:p.Glu119=
146/10482 0.01345 4 mitochondrial_gene_context Likely Benign
View MT 6261 6261 G > A MT-CO1 ENST00000361624.2:c.358G>A
ENSP00000354499.2:p.Ala120Thr
83/10483 0.00735 4 mitochondrial_gene_context Likely Benign
View MT 6278 6278 T > C MT-CO1 ENST00000361624.2:c.375T>C
ENSP00000354499.2:p.Gly125=
2/10482 0.00014 4 mitochondrial_gene_context Likely Benign
View MT 6515 6515 T > C MT-CO1 ENST00000361624.2:c.612T>C
ENSP00000354499.2:p.Ala204=
9/10482 0.00076 4 mitochondrial_gene_context Likely Benign
View MT 6674 6674 T > C MT-CO1 ENST00000361624.2:c.771T>C
ENSP00000354499.2:p.Ile257=
6/10482 0.00057 4 mitochondrial_gene_context Likely Benign
View MT 6719 6719 T > C MT-CO1 ENST00000361624.2:c.816T>C
ENSP00000354499.2:p.Gly272=
61/10482 0.00553 4 mitochondrial_gene_context Likely Benign
View MT 7220 7220 T > C MT-CO1 ENST00000361624.2:c.1317T>C
ENSP00000354499.2:p.Arg439=
7/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 7819 7819 C > A MT-CO2 ENST00000361739.1:c.234C>A
ENSP00000354876.1:p.Leu78=
66/10482 0.00487 4 mitochondrial_gene_context Likely Benign
View MT 7861 7861 T > C MT-CO2 ENST00000361739.1:c.276T>C
ENSP00000354876.1:p.Asp92=
29/10482 0.00253 4 mitochondrial_gene_context Likely Benign
View MT 7867 7867 C > T MT-CO2 ENST00000361739.1:c.282C>T
ENSP00000354876.1:p.Ser94=
96/10483 0.00887 4 mitochondrial_gene_context Likely Benign
View MT 8260 8260 T > C MT-CO2 ENST00000361739.1:c.675T>C
ENSP00000354876.1:p.Phe225=
5/10482 0.00048 4 mitochondrial_gene_context Likely Benign
View MT 8396 8396 A > G MT-ATP8 ENST00000361851.1:c.31A>G
ENSP00000355265.1:p.Thr11Ala
2/10482 0.00019 4 non_synonymous Likely Benign
View MT 8410 8410 C > T MT-ATP8 ENST00000361851.1:c.45C>T
ENSP00000355265.1:p.Pro15=
26/10482 0.00234 4 mitochondrial_gene_context Likely Benign
View MT 8429 8429 C > T MT-ATP8 ENST00000361851.1:c.64C>T
ENSP00000355265.1:p.Leu22Phe
8/10482 0.00076 4 non_synonymous Likely Benign
View MT 8448 8448 T > C MT-ATP8 ENST00000361851.1:c.83T>C
ENSP00000355265.1:p.Met28Thr
93/10482 0.00863 4 non_synonymous Likely Benign
View MT 8519 8519 G > A MT-ATP8 ENST00000361851.1:c.154G>A
ENSP00000355265.1:p.Glu52Lys
37/10482 0.0032 4 mitochondrial_gene_context Likely Benign
View MT 8527 8527 A > G MT-ATP8 MT-ATP6 ENST00000361851.1:c.162A>G
ENST00000361899.2:c.1A>G
ENSP00000355265.1:p.Lys54=
ENSP00000354632.2:p.Met1?
37/10483 0.00348 4 mitochondrial_gene_context Likely Benign
View MT 8616 8616 G > T MT-ATP6 ENST00000361899.2:c.90G>T
ENSP00000354632.2:p.Leu30Phe
148/10482 0.00944 4 non_synonymous Likely Benign
View MT 8619 8619 C > T MT-ATP6 ENST00000361899.2:c.93C>T
ENSP00000354632.2:p.Ile31=
11/10482 0.00105 4 mitochondrial_gene_context Likely Benign
View MT 8705 8705 T > C MT-ATP6 ENST00000361899.2:c.179T>C
ENSP00000354632.2:p.Met60Thr
59/10483 0.00539 4 non_synonymous Likely Benign
View MT 8790 8790 G > A MT-ATP6 ENST00000361899.2:c.264G>A
ENSP00000354632.2:p.Leu88=
24/10482 0.00215 4 mitochondrial_gene_context Likely Benign
View MT 8817 8817 A > G MT-ATP6 ENST00000361899.2:c.291A>G
ENSP00000354632.2:p.Gln97=
1/10482 0.0001 4 mitochondrial_gene_context Likely Benign
View MT 8818 8818 C > T MT-ATP6 ENST00000361899.2:c.292C>T
ENSP00000354632.2:p.Leu98=
72/10482 0.00673 4 mitochondrial_gene_context Likely Benign
View MT 8856 8856 G > A MT-ATP6 ENST00000361899.2:c.330G>A
ENSP00000354632.2:p.Ala110=
19/10482 0.00162 4 mitochondrial_gene_context Likely Benign
View MT 8877 8877 T > C MT-ATP6 ENST00000361899.2:c.351T>C
ENSP00000354632.2:p.Phe117=
31/10483 0.00296 4 mitochondrial_gene_context Likely Benign
View MT 8886 8886 G > A MT-ATP6 ENST00000361899.2:c.360G>A
ENSP00000354632.2:p.Lys120=
10/10482 0.00081 4 mitochondrial_gene_context Likely Benign
Displaying 2,400 through 2,450 of 2,719 variants