ClinVar Miner

List of variants in gene MYH6 studied for Dilated cardiomyopathy 1EE

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.2040del (p.Lys681fs) rs2138604913
NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu) rs267606906
NM_002471.4(MYH6):c.3463G>A (p.Ala1155Thr)
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val) rs876657876
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)

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