ClinVar Miner

List of variants in gene MYH6 reported as uncertain significance by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) rs202028680 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_002471.4(MYH6):c.5661G>A (p.Ala1887=) rs759126258 0.00004
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu) rs758922922 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.968_969dup (p.Ile324fs) rs1891644944 0.00001
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.2292+1G>T rs771569935
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys) rs750174797
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs) rs1114167343
NM_002471.4(MYH6):c.820del (p.Arg273_Val274insTer) rs2138616823
NM_002471.4(MYH6):c.961G>C (p.Val321Leu) rs753937010

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