ClinVar Miner

List of variants in gene combination MYH8, MYHAS reported by Genetic Services Laboratory, University of Chicago

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) rs34693726 0.05120
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) rs12936716 0.05000
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=) rs138992963 0.01251
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_002472.3(MYH8):c.805+9C>T rs75468422 0.00426
NM_002472.3(MYH8):c.540C>T (p.Thr180=) rs34613390 0.00355
NM_002472.3(MYH8):c.2432+6A>C rs111692916 0.00351
NM_002472.3(MYH8):c.1650C>T (p.Ser550=) rs61730801 0.00347
NM_002472.3(MYH8):c.4740A>C (p.Ala1580=) rs61730806 0.00347
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00085
NM_002472.3(MYH8):c.578G>A (p.Arg193His) rs145863180 0.00052
NM_002472.3(MYH8):c.5113G>A (p.Ala1705Thr) rs143448404 0.00035
NM_002472.3(MYH8):c.161T>C (p.Ile54Thr) rs375148987 0.00004
NM_002472.3(MYH8):c.1770C>T (p.Asp590=) rs1555557227 0.00001
NM_002472.3(MYH8):c.387C>T (p.Asn129=) rs754559937
NM_002472.3(MYH8):c.4537del (p.Ser1513fs) rs1459072387

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