ClinVar Miner

List of variants in gene EOGT studied for Adams-Oliver syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057
NM_001278689.2(EOGT):c.1335-1G>A rs185181819
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290
NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile) rs0
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser) rs139295083
NM_001278689.2(EOGT):c.311+1G>T rs369583084
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu) rs0
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473
NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile) rs116138787
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) rs0
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529
NM_001278689.2(EOGT):c.831+2T>C rs1559604548

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.