ClinVar Miner

List of variants reported for Rhabdomyolysis by Yale Center for Mendelian Genomics, Yale University

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515 0.00002
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg) rs750422335
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly) rs1555762532

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