ClinVar Miner

List of variants in gene GJA1 studied for autosomal dominant palmoplantar keratoderma and congenital alopecia

Included ClinVar conditions (2):
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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.23G>T (p.Gly8Val) rs864309644
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855

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