ClinVar Miner

List of variants in gene MYO3A reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
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.1248A>G (p.Gln416=) rs143749728 0.00035
NM_017433.5(MYO3A):c.4627G>A (p.Glu1543Lys) rs148069836 0.00021
NM_017433.5(MYO3A):c.1170+5G>A rs370017770 0.00016
NM_017433.5(MYO3A):c.693T>C (p.Ala231=) rs886043667 0.00002
NM_017433.5(MYO3A):c.1991G>T (p.Arg664Leu) rs886042194 0.00001
NM_017433.5(MYO3A):c.3974G>A (p.Arg1325His) rs753360802 0.00001
NM_017433.5(MYO3A):c.1279A>G (p.Ile427Val) rs745680182
NM_017433.5(MYO3A):c.1563-7T>C rs886044560
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688

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