ClinVar Miner

List of variants in gene MYO3A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_017433.5(MYO3A):c.*493G>A rs72787376 0.00838
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696 0.00819
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474 0.00780
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_017433.5(MYO3A):c.1360-8C>A rs201980317 0.00011
NM_017433.5(MYO3A):c.1803C>T (p.Leu601=) rs201584106 0.00001
NM_017433.5(MYO3A):c.*35G>T
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.1671A>G (p.Gln557=)
NM_017433.5(MYO3A):c.1848A>T (p.Ala616=)
NM_017433.5(MYO3A):c.2588A>C (p.Asp863Ala)
NM_017433.5(MYO3A):c.2925A>G (p.Thr975=)
NM_017433.5(MYO3A):c.4546-2994T>C

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