ClinVar Miner

List of variants in gene MYO7A reported as pathogenic by Ambry Genetics

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Total variants: 3
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NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178

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