ClinVar Miner

List of variants studied for COG6-ongenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.*80C>T rs4245396 0.40944
NM_020751.3(COG6):c.*1052A>G rs9943 0.35836
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_020751.3(COG6):c.*149G>T rs55787876 0.00326
NM_020751.3(COG6):c.*40A>G rs185838939 0.00295
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_020751.3(COG6):c.*555G>A rs140263403 0.00232
NM_020751.3(COG6):c.*589C>G rs144047200 0.00229
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00196
NM_020751.3(COG6):c.1693-7T>A rs34566895 0.00073
NM_020751.3(COG6):c.1947G>A (p.Pro649=) rs147311831 0.00069
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys) rs144843064 0.00061
NM_020751.3(COG6):c.*1508G>T rs572737538 0.00058
NM_020751.3(COG6):c.*720A>G rs570074271 0.00048
NM_020751.3(COG6):c.-53T>G rs534007509 0.00046
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_020751.3(COG6):c.*1196A>T rs779302124 0.00037
NM_020751.3(COG6):c.*1181T>C rs544870155 0.00033
NM_020751.3(COG6):c.1263T>C (p.His421=) rs147295042 0.00024
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00021
NM_020751.3(COG6):c.*1210A>G rs367728831 0.00019
NM_020751.3(COG6):c.1075-12A>C rs370228676 0.00016
NM_020751.3(COG6):c.*443A>G rs886050233 0.00013
NM_020751.3(COG6):c.*1248T>A rs1036372047 0.00011
NM_020751.3(COG6):c.1891G>A (p.Val631Met) rs143909067 0.00010
NM_020751.3(COG6):c.362G>A (p.Arg121His) rs762985352 0.00010
NM_020751.3(COG6):c.1760G>A (p.Arg587His) rs191156299 0.00009
NM_020751.3(COG6):c.*86T>C rs568183642 0.00008
NM_020751.3(COG6):c.1397G>A (p.Arg466His) rs537646524 0.00006
NM_020751.3(COG6):c.*1001C>G rs764057670 0.00005
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu) rs886050227 0.00005
NM_020751.3(COG6):c.607A>C (p.Asn203His) rs142984333 0.00005
NM_020751.3(COG6):c.369+4T>C rs963188886 0.00004
NM_020751.3(COG6):c.917+4T>C rs540600821 0.00004
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.*1241A>G rs778373974 0.00001
NM_020751.3(COG6):c.*129C>T rs553571851 0.00001
NM_020751.3(COG6):c.*352T>G rs765226879 0.00001
NM_020751.3(COG6):c.*61T>C rs886050230 0.00001
NM_020751.3(COG6):c.-44C>G rs773473260 0.00001
NM_020751.3(COG6):c.-50G>A rs1442379324 0.00001
NM_020751.3(COG6):c.1236A>G (p.Lys412=) rs764254797 0.00001
NM_020751.3(COG6):c.1513C>T (p.Leu505=) rs886050228 0.00001
NM_020751.3(COG6):c.1676A>T (p.Gln559Leu) rs370704123 0.00001
NM_020751.3(COG6):c.260A>G (p.Asn87Ser) rs751870618 0.00001
NM_020751.3(COG6):c.310A>G (p.Ile104Val) rs770411791 0.00001
NM_020751.3(COG6):c.835C>T (p.Arg279Cys) rs764437648 0.00001
NM_020751.3(COG6):c.958G>A (p.Ala320Thr) rs1347701158 0.00001
NM_020751.3(COG6):c.*1093G>T rs114184435
NM_020751.3(COG6):c.*52G>A rs773641894
NM_020751.3(COG6):c.*889T>A rs374465943
NM_020751.3(COG6):c.*889T>C rs374465943
NM_020751.3(COG6):c.*987A>G rs750527031
NM_020751.3(COG6):c.-10G>C rs772205293
NM_020751.3(COG6):c.1066C>T (p.Pro356Ser) rs886050226
NM_020751.3(COG6):c.1135A>C (p.Asn379His) rs576607031
NM_020751.3(COG6):c.12C>T (p.Gly4=) rs886050223
NM_020751.3(COG6):c.1459G>A (p.Val487Ile) rs200410517
NM_020751.3(COG6):c.1810C>T (p.Leu604=) rs370035888
NM_020751.3(COG6):c.1851A>C (p.Thr617=) rs886050229
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.37G>A (p.Ala13Thr) rs886050224
NM_020751.3(COG6):c.602G>T (p.Arg201Leu) rs770351109
NM_020751.3(COG6):c.663G>A (p.Thr221=) rs746682554
NM_020751.3(COG6):c.797T>C (p.Leu266Ser) rs752939865
NM_020751.3(COG6):c.828A>C (p.Thr276=) rs886050225
NM_020751.3(COG6):c.86C>T (p.Ala29Val) rs1566165324

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.