ClinVar Miner

List of variants reported as likely 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:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439

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