ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive congenital ichthyosis 10

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_173676.2(PNPLA1):c.-20C>T rs922934422
NM_173676.2(PNPLA1):c.-80-20712C>A rs533584507
NM_173676.2(PNPLA1):c.-80-20805C>G rs1373230987
NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro) rs781053760
NM_173676.2(PNPLA1):c.329C>T (p.Pro110Leu) rs766215523
NM_173676.2(PNPLA1):c.452G>C (p.Arg151Pro) rs746575171
NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr) rs369445146
NM_173676.2(PNPLA1):c.535del (p.Arg179fs) rs1170446813
NM_173676.2(PNPLA1):c.65C>T (p.Thr22Met) rs371307766

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.