ClinVar Miner

List of variants in gene SMARCAD1 studied for Keratoderma with scleroatrophy of the extremities

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala) rs7439869 0.69652
NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=) rs6823404 0.52569
NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=) rs2306802 0.38873
NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn) rs11722476 0.36530
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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