ClinVar Miner

List of variants in gene combination MYH8, MYHAS reported as uncertain significance for Inborn genetic diseases

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00085
NM_002472.3(MYH8):c.4786G>A (p.Val1596Ile) rs61730807 0.00052
NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) rs138607111 0.00045
NM_002472.3(MYH8):c.59G>A (p.Arg20Gln) rs201580344 0.00026
NM_002472.3(MYH8):c.277A>G (p.Met93Val) rs144036067 0.00021
NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile) rs199851248 0.00019
NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser) rs147828853 0.00009
NM_002472.3(MYH8):c.254C>T (p.Pro85Leu) rs375714148 0.00009
NM_002472.3(MYH8):c.161T>C (p.Ile54Thr) rs375148987 0.00004
NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu) rs759976728 0.00001
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) rs760777722 0.00001
NM_002472.3(MYH8):c.100T>C (p.Phe34Leu)
NM_002472.3(MYH8):c.1101C>G (p.Phe367Leu)
NM_002472.3(MYH8):c.1264C>T (p.Gln422Ter) rs371035884
NM_002472.3(MYH8):c.1270T>A (p.Tyr424Asn)
NM_002472.3(MYH8):c.1271A>C (p.Tyr424Ser)
NM_002472.3(MYH8):c.1276G>T (p.Ala426Ser)
NM_002472.3(MYH8):c.1333C>T (p.Arg445Cys)
NM_002472.3(MYH8):c.1334G>A (p.Arg445His)
NM_002472.3(MYH8):c.1726G>A (p.Ala576Thr)
NM_002472.3(MYH8):c.184G>A (p.Val62Ile)
NM_002472.3(MYH8):c.1937C>T (p.Ser646Phe)
NM_002472.3(MYH8):c.2017G>A (p.Val673Ile)
NM_002472.3(MYH8):c.2036A>G (p.Asn679Ser)
NM_002472.3(MYH8):c.2087T>C (p.Leu696Pro)
NM_002472.3(MYH8):c.2273A>G (p.Gln758Arg)
NM_002472.3(MYH8):c.2396T>A (p.Leu799Gln)
NM_002472.3(MYH8):c.2498T>G (p.Met833Arg)
NM_002472.3(MYH8):c.259T>C (p.Tyr87His)
NM_002472.3(MYH8):c.320A>G (p.Asn107Ser)
NM_002472.3(MYH8):c.365G>A (p.Gly122Asp)
NM_002472.3(MYH8):c.3667G>A (p.Glu1223Lys)
NM_002472.3(MYH8):c.3684G>C (p.Lys1228Asn)
NM_002472.3(MYH8):c.3811C>T (p.Arg1271Trp)
NM_002472.3(MYH8):c.3821A>G (p.Asn1274Ser)
NM_002472.3(MYH8):c.3893A>G (p.Asp1298Gly)
NM_002472.3(MYH8):c.3977C>T (p.Thr1326Ile)
NM_002472.3(MYH8):c.4086G>C (p.Arg1362Ser)
NM_002472.3(MYH8):c.4122G>T (p.Trp1374Cys)
NM_002472.3(MYH8):c.4135G>A (p.Glu1379Lys)
NM_002472.3(MYH8):c.4268G>A (p.Arg1423Gln)
NM_002472.3(MYH8):c.4298T>C (p.Leu1433Pro)
NM_002472.3(MYH8):c.4552C>A (p.Gln1518Lys)
NM_002472.3(MYH8):c.4750G>A (p.Glu1584Lys)
NM_002472.3(MYH8):c.4808C>T (p.Thr1603Met)
NM_002472.3(MYH8):c.499T>A (p.Phe167Ile)
NM_002472.3(MYH8):c.5064C>G (p.Ile1688Met)
NM_002472.3(MYH8):c.5086G>A (p.Glu1696Lys)
NM_002472.3(MYH8):c.5629A>G (p.Lys1877Glu)
NM_002472.3(MYH8):c.5636A>T (p.Lys1879Ile)
NM_002472.3(MYH8):c.5728G>A (p.Glu1910Lys)
NM_002472.3(MYH8):c.601A>G (p.Ile201Val)
NM_002472.3(MYH8):c.611C>G (p.Thr204Ser)
NM_002472.3(MYH8):c.662A>T (p.Asp221Val)
NM_002472.3(MYH8):c.736C>T (p.Arg246Cys)
NM_002472.3(MYH8):c.835C>G (p.Gln279Glu)
NM_002472.3(MYH8):c.854G>A (p.Ser285Asn)

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