ClinVar Miner

List of variants studied for diffuse palmoplantar keratoderma by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)

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