ClinVar Miner

List of variants in gene MYO7A studied for Retinitis pigmentosa

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000260.4(MYO7A):c.3503+12G>A rs78509218 0.00008
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp) rs781586223 0.00003
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) rs527236085
NM_000260.4(MYO7A):c.535_536del (p.Ser179fs)
NM_000260.4(MYO7A):c.785T>G (p.Met262Arg) rs1952576456
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) rs1591277785
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081

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