ClinVar Miner

List of variants reported as pathogenic for Keratoderma with scleroatrophy of the extremities

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020159.5(SMARCAD1):c.1281+649_1281+666del rs1560542180
NM_020159.5(SMARCAD1):c.1281+666T>C rs1114167276
NM_020159.5(SMARCAD1):c.1281+666dup rs1560542214

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