ClinVar Miner

List of variants in gene MYO3A reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu) rs756557890 0.00001
NM_017433.5(MYO3A):c.1534G>A (p.Glu512Lys) rs1564535973
NM_017433.5(MYO3A):c.154C>G (p.Leu52Val) rs1191024582
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.731+4A>T rs1184463802

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