ClinVar Miner

List of variants in gene IMPDH1 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*231C>G rs1042267
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.*258C>T rs886061981
NM_000883.4(IMPDH1):c.*259G>A rs535964010
NM_000883.4(IMPDH1):c.*321G>A rs571536404
NM_000883.4(IMPDH1):c.*321G>T rs571536404
NM_000883.4(IMPDH1):c.*631C>T rs760544024
NM_000883.4(IMPDH1):c.-59G>A rs886061985
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373
NM_000883.4(IMPDH1):c.146+9C>T rs749118285
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)

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.