ClinVar Miner

List of variants in gene MYH6 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro) rs142437308 0.00006
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His) rs369247906 0.00005
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_002471.4(MYH6):c.5348G>A (p.Arg1783His) rs745473249 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_002471.4(MYH6):c.1663G>A (p.Asp555Asn) rs730880149 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.1002+3G>A rs869025475
NM_002471.4(MYH6):c.4144A>G (p.Ile1382Val) rs1555333536
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960

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