ClinVar Miner

List of variants studied for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) rs770195151
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439

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