ClinVar Miner

List of variants in gene MYO5A reported by PreventionGenetics, part of Exact Sciences

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001382347.1(MYO5A):c.1543-13T>C rs1724623 0.92882
NM_001382347.1(MYO5A):c.5040T>C (p.Asp1680=) rs2290332 0.19444
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219 0.14826
NM_001382347.1(MYO5A):c.3414A>G (p.Ser1138=) rs13329278 0.10233
NM_001382347.1(MYO5A):c.3309+18del rs57599264 0.09071
NM_001382347.1(MYO5A):c.1880T>C (p.Met627Thr) rs16964944 0.05494
NM_001382347.1(MYO5A):c.2730C>T (p.Ile910=) rs11637651 0.04958
NM_001382347.1(MYO5A):c.456-4A>G rs61363656 0.04815
NM_001382347.1(MYO5A):c.3960A>T (p.Arg1320Ser) rs61731219 0.03536
NM_001382347.1(MYO5A):c.2817+3G>A rs117029104 0.01998
NM_001382347.1(MYO5A):c.5409+16C>T rs185241256 0.00490
NM_001382347.1(MYO5A):c.2814G>A (p.Glu938=) rs190656197 0.00393
NM_001382347.1(MYO5A):c.947-16C>T rs149943255 0.00347
NM_001382347.1(MYO5A):c.1872A>C (p.Pro624=) rs150624865 0.00249
NM_001382347.1(MYO5A):c.4239+20C>T rs143400779 0.00220
NM_001382347.1(MYO5A):c.4952-18A>G rs370561421 0.00181
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu) rs9282796 0.00141
NM_001382347.1(MYO5A):c.3567+20C>T rs150782002 0.00139
NM_001382347.1(MYO5A):c.3567+19C>T rs200875714 0.00100
NM_001382347.1(MYO5A):c.696T>C (p.Tyr232=) rs148997257 0.00089
NM_001382347.1(MYO5A):c.3207C>T (p.Leu1069=) rs183302379 0.00061
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser) rs147898420 0.00058
NM_001382347.1(MYO5A):c.5471C>T (p.Ser1824Leu) rs199675131 0.00044
NM_001382347.1(MYO5A):c.3849+7G>A rs371130081 0.00029
NM_001382347.1(MYO5A):c.4011G>A (p.Leu1337=) rs147582503 0.00025
NM_001382347.1(MYO5A):c.3567+4C>T rs186277072 0.00020
NM_001382347.1(MYO5A):c.2477G>A (p.Arg826His) rs752461164 0.00012
NM_001382347.1(MYO5A):c.201A>T (p.Ile67=) rs372972607 0.00006
NM_001382347.1(MYO5A):c.1713C>T (p.Thr571=) rs376265116 0.00005
NM_001382347.1(MYO5A):c.947-9_947-8del rs764237573 0.00001
NM_001382347.1(MYO5A):c.2420+4G>A
NM_001382347.1(MYO5A):c.2715A>G (p.Leu905=)
NM_001382347.1(MYO5A):c.3131G>A (p.Arg1044His)
NM_001382347.1(MYO5A):c.3192G>A (p.Thr1064=)
NM_001382347.1(MYO5A):c.4041-4G>A
NM_001382347.1(MYO5A):c.4893C>T (p.Ala1631=)
NM_001382347.1(MYO5A):c.4951+3A>G
NM_001382347.1(MYO5A):c.4952-25_4952-23del
NM_001382347.1(MYO5A):c.735G>A (p.Glu245=)

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