ClinVar Miner

List of variants reported as pathogenic for Cataract 21, multiple types; Ayme-gripp syndrome by Invitae

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Total variants: 4
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NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611

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