ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by GeneReviews

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.-45C>T rs267608252
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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.