ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233

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.