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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 149767053 149767053 T > G MTM1 NM_000252.2:c.137-3T>G
1/8745 0.00011 1 Likely pathogenic
Displaying 1 variant