ClinVar Miner

List of variants reported as uncertain significance 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: 59
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HGVS dbSNP gnomAD frequency
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.*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.*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.*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.*52G>A rs773641894
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.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

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