ClinVar Miner

List of variants in gene MYO7A reported as pathogenic for Retinal dystrophy

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) rs778934538 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317

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