ClinVar Miner

List of variants reported as benign for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338

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