ClinVar Miner

List of variants in gene MYH6 reported by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala) rs365990 0.44987
NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771 0.08821
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) rs757840030 0.00007
NM_002471.4(MYH6):c.1328G>A (p.Arg443His) rs202096001 0.00006
NM_002471.4(MYH6):c.2206C>A (p.Gln736Lys) rs201411075 0.00003
NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys) rs760399050 0.00003
NM_002471.4(MYH6):c.731G>A (p.Arg244His) rs200645920 0.00002
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1716dup (p.Lys573fs) rs786205354
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.3817A>T (p.Asn1273Tyr) rs200503588
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter) rs141062252
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347

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