ClinVar Miner

List of variants in gene MYH6 reported as uncertain significance by Blueprint Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.1048G>A (p.Val350Ile) rs200260629 0.00025
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met) rs869025472 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
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.3133A>G (p.Lys1045Glu) rs869025474 0.00001
NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp) rs769271404 0.00001
NM_002471.4(MYH6):c.5796G>A (p.Lys1932=) rs730880153 0.00001
NM_002471.4(MYH6):c.1002+3G>A rs869025475
NM_002471.4(MYH6):c.2538G>C (p.Glu846Asp) rs730880150
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.3105+9T>C rs1555333942
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960

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