List of variants reported as uncertain significance for COG6-ongenital disorder of glycosylation

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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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.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.1645G>T (p.Gly549Cys)	rs141114931	0.00078
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.155A>G (p.Glu52Gly)	rs201308360	0.00012
NM_020751.3(COG6):c.*1248T>A	rs1036372047	0.00011
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)	rs201922229	0.00011
NM_020751.3(COG6):c.730G>A (p.Val244Ile)	rs147560202	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.1415A>G (p.Gln472Arg)	rs756742630	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.1738G>A (p.Ala580Thr)	rs773262760	0.00004
NM_020751.3(COG6):c.369+4T>C	rs963188886	0.00004
NM_020751.3(COG6):c.556C>A (p.Leu186Met)	rs781524524	0.00004
NM_020751.3(COG6):c.917+4T>C	rs540600821	0.00004
NM_020751.3(COG6):c.1961C>T (p.Thr654Met)	rs747232819	0.00003
NM_020751.3(COG6):c.119A>G (p.His40Arg)	rs148246113	0.00002
NM_020751.3(COG6):c.134C>T (p.Thr45Met)	rs545371712	0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)	rs746119230	0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs)	rs1486717174	0.00002
NM_020751.3(COG6):c.783A>T (p.Leu261Phe)	rs199694513	0.00002
NM_020751.3(COG6):c.95G>T (p.Cys32Phe)	rs576575818	0.00002
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.1009+6T>C	rs752382409	0.00001
NM_020751.3(COG6):c.1236A>G (p.Lys412=)	rs764254797	0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)	rs756614480	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.697G>A (p.Glu233Lys)	rs745501973	0.00001
NM_020751.3(COG6):c.835C>T (p.Arg279Cys)	rs764437648	0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser)	rs748959066	0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys)	rs754624882	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.1036G>A (p.Val346Ile)	rs1876874289
NM_020751.3(COG6):c.1043A>G (p.His348Arg)	rs2138012022
NM_020751.3(COG6):c.1066C>T (p.Pro356Ser)	rs886050226
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
NM_020751.3(COG6):c.1135A>C (p.Asn379His)	rs576607031
NM_020751.3(COG6):c.1138CTC[1] (p.Leu381del)	rs756077038
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.12C>T (p.Gly4=)	rs886050223
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.1459G>A (p.Val487Ile)	rs200410517
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1746+2T>G	rs1555280464
NM_020751.3(COG6):c.1810C>T (p.Leu604=)	rs370035888
NM_020751.3(COG6):c.1826+3A>C	rs768907183
NM_020751.3(COG6):c.1851A>C (p.Thr617=)	rs886050229
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala)	rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.26T>A (p.Val9Asp)	rs2137932050
NM_020751.3(COG6):c.299A>T (p.Glu100Val)	rs866336771
NM_020751.3(COG6):c.37G>A (p.Ala13Thr)	rs886050224
NM_020751.3(COG6):c.535A>G (p.Thr179Ala)	rs1322763277
NM_020751.3(COG6):c.53A>G (p.Asn18Ser)	rs2137932213
NM_020751.3(COG6):c.602G>T (p.Arg201Leu)	rs770351109
NM_020751.3(COG6):c.623+1G>T
NM_020751.3(COG6):c.663G>A (p.Thr221=)	rs746682554
NM_020751.3(COG6):c.695G>A (p.Ser232Asn)	rs780879386
NM_020751.3(COG6):c.70G>T (p.Ala24Ser)	rs539907116
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
NM_020751.3(COG6):c.784T>C (p.Tyr262His)	rs1876359351
NM_020751.3(COG6):c.788+5G>A
NM_020751.3(COG6):c.797T>C (p.Leu266Ser)	rs752939865
NM_020751.3(COG6):c.80C>G (p.Thr27Ser)	rs776763438
NM_020751.3(COG6):c.828A>C (p.Thr276=)	rs886050225
NM_020751.3(COG6):c.851C>T (p.Ala284Val)	rs148869108
NM_020751.3(COG6):c.86C>T (p.Ala29Val)	rs1566165324
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile)	rs1428739783
NM_020751.3(COG6):c.989T>C (p.Leu330Ser)	rs1876747862
NM_020751.3(COG6):c.9G>C (p.Glu3Asp)	rs1016478271

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