List of variants studied for Adams-Oliver syndrome 4 by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP
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.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.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.71C>G (p.Pro24Arg)	rs140016031
NM_001278689.2(EOGT):c.783C>T (p.His261=)	rs147327086
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.