List of variants reported as benign for COG7 congenital disorder of glycosylation

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153603.4(COG7):c.*187A>G	rs250588	0.31336
NM_153603.4(COG7):c.*47C>T	rs250587	0.21141
NM_153603.4(COG7):c.2103T>C (p.Pro701=)	rs8057712	0.09257
NM_153603.4(COG7):c.1814C>T (p.Thr605Met)	rs16940094	0.07374
NM_153603.4(COG7):c.534G>A (p.Glu178=)	rs80204521	0.00330
NM_153603.4(COG7):c.1971C>T (p.His657=)	rs114458562	0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=)	rs144814374	0.00150
NM_153603.4(COG7):c.1137+11A>C	rs74012174	0.00124
NM_153603.4(COG7):c.900C>T (p.Asn300=)	rs112611398	0.00091
NM_153603.4(COG7):c.1888-17G>A	rs112887835	0.00088
NM_153603.4(COG7):c.1137+8C>T	rs75523257	0.00079
NM_153603.4(COG7):c.1113C>T (p.Leu371=)	rs114661874	0.00078
NM_153603.4(COG7):c.319-12C>T	rs201965984	0.00077
NM_153603.4(COG7):c.170-4A>G	rs544015151	0.00032
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)	rs145412851	0.00031
NM_153603.4(COG7):c.811-14C>G	rs545654100	0.00016
NM_153603.4(COG7):c.835G>A (p.Val279Ile)	rs367796897	0.00015
NM_153603.4(COG7):c.525G>A (p.Val175=)	rs144180834	0.00011
NM_153603.4(COG7):c.687+7A>C	rs199964250	0.00004
NM_153603.4(COG7):c.1089C>T (p.Gly363=)	rs539939894
NM_153603.4(COG7):c.169+18del	rs140548275
NM_153603.4(COG7):c.170-10_170-9del	rs71379679
NM_153603.4(COG7):c.170-9del	rs71379679
NM_153603.4(COG7):c.1803+15G>A
NM_153603.4(COG7):c.2146+10del	rs748589611
NM_153603.4(COG7):c.366C>T (p.Ala122=)	rs74012178
NM_153603.4(COG7):c.810+16del

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.