List of variants reported as pathogenic for disorder of multiple glycosylation by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
NM_032357.4(VMA22):c.92T>C (p.Leu31Ser)	rs751325113	0.00004
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)	rs1212623980	0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)	rs1236647498	0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	rs1057516374	0.00003
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	rs121908632	0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His)	rs144727134	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)	rs548774836	0.00002
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)	rs754892377	0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	rs1191857860	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)	rs539332585	0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)	rs786204476	0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387	0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	rs398124401	0.00001
NM_005476.7(GNE):c.1220dup (p.Ser408fs)	rs2133041569
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	rs786204558
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)	rs1057516657
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)	rs372872777
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)	rs1209266607
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)	rs1830025657
NM_005476.7(GNE):c.694del (p.Met232fs)	rs1554661549
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)	rs2133078032
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)	rs2063491273
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)	rs1057518719
NM_020751.3(COG6):c.1167-24A>G	rs730882236

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.