ClinVar Miner

List of variants in gene MYO7A reported by Hereditary Research Laboratory, Bethlehem University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801

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