ClinVar Miner

List of variants in gene SMARCAD1 reported as pathogenic for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001128430.2(SMARCAD1):c.1281+649_1281+666del rs1560542180
NM_001128430.2(SMARCAD1):c.1281+666T>C rs1114167276
NM_001128430.2(SMARCAD1):c.1281+666dup rs1560542214

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