ClinVar Miner

List of variants in gene MYO7A reported as pathogenic by Center for Statistical Genetics, Columbia University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217

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