ClinVar Miner

List of variants in gene MYO7A reported as uncertain significance for Retinal dystrophy

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp) rs781904621 0.00001
NM_000260.4(MYO7A):c.3795G>A (p.Met1265Ile) rs1378145255 0.00001
NM_000260.4(MYO7A):c.850-3C>G rs1187661885 0.00001
NM_000260.4(MYO7A):c.1201-5T>C rs1555068154
NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val) rs1952942887
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr) rs1954925828
NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro) rs1955018761
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp) rs868480782
NM_000260.4(MYO7A):c.4853-11C>G rs1957054424
NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu) rs1404887775

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