ClinVar Miner

List of variants in gene MYO7A reported as uncertain significance for MYO7A-Related Disorders

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.2282+1G>C rs1565397890
NM_000260.4(MYO7A):c.4105C>T (p.Gln1369Ter) rs1565440205
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491

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