ClinVar Miner

List of variants in gene PORCN reported as pathogenic for Focal dermal hypoplasia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_203473.3(PORCN):c.1008+2T>A rs1556975151
NM_203473.3(PORCN):c.1044_1056dup (p.Thr353fs) rs587776737
NM_203473.3(PORCN):c.1094G>A (p.Arg365Gln) rs387906723
NM_203473.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203473.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203473.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203473.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218

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.