ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.1156G>A (p.Val386Met) rs766493535 0.00001
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) rs2152160177
NM_021629.4(GNB4):c.232A>C (p.Lys78Gln)

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