ClinVar Miner

List of variants in gene KRT17 studied for autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) rs28928898
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) rs28928896
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) rs28928897
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) rs57674130
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) rs28928899
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) rs28928899
NM_000422.3(KRT17):c.287_289CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) rs28933088
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) rs28933089
NM_000422.3(KRT17):c.304G>A (p.Val102Met) rs59977263

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.