ClinVar Miner

List of variants studied for COG6-ongenital disorder of glycosylation

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
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.1074+18T>C rs9548882 0.20795
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.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
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.1693-7_1693-6del rs1491507046 0.00273
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.65A>G (p.Asn22Ser) rs149055210 0.00133
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_020751.3(COG6):c.1693-12T>C rs561776134 0.00097
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys) rs141114931 0.00078
NM_020751.3(COG6):c.1145A>G (p.Lys382Arg) rs139371264 0.00073
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.370-18A>G rs184193902 0.00043
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.1233A>G (p.Lys411=) rs201806513 0.00035
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.261T>C (p.Asn87=) rs146261996 0.00016
NM_020751.3(COG6):c.*443A>G rs886050233 0.00013
NM_020751.3(COG6):c.1533A>T (p.Thr511=) rs201542120 0.00012
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 0.00012
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 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.303T>C (p.Leu101=) rs764185523 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.1140C>T (p.Leu380=) rs772945485 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.1071A>G (p.Leu357=) rs746862943 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.336C>T (p.Ser112=) rs111943857 0.00004
NM_020751.3(COG6):c.369+4T>C rs963188886 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 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.939T>C (p.Ala313=) rs550755756 0.00004
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 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.1368C>T (p.His456=) rs550615578 0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly) rs746119230 0.00002
NM_020751.3(COG6):c.1558A>C (p.Arg520=) rs760219472 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+15T>C rs757170273 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.123G>A (p.Lys41=) rs757337069 0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) rs756614480 0.00001
NM_020751.3(COG6):c.126C>T (p.Ile42=) rs746085866 0.00001
NM_020751.3(COG6):c.1513C>T (p.Leu505=) rs886050228 0.00001
NM_020751.3(COG6):c.154-12C>T rs368678409 0.00001
NM_020751.3(COG6):c.1585-2A>G rs200812708 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.*1093G>T rs114184435
NM_020751.3(COG6):c.*315del rs142947196
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.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.1140C>G (p.Leu380=)
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020751.3(COG6):c.1239dup (p.Phe414fs) rs1555277827
NM_020751.3(COG6):c.1242C>T (p.Phe414=) rs2138033067
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.12C>T (p.Gly4=) rs886050223
NM_020751.3(COG6):c.1357T>C (p.Leu453=) rs2138074922
NM_020751.3(COG6):c.1362A>G (p.Ala454=)
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.1459G>A (p.Val487Ile) rs200410517
NM_020751.3(COG6):c.153+11C>A rs371609631
NM_020751.3(COG6):c.153+392A>G
NM_020751.3(COG6):c.154-2A>G rs1593402927
NM_020751.3(COG6):c.1542A>G (p.Leu514=)
NM_020751.3(COG6):c.1587C>T (p.Ile529=)
NM_020751.3(COG6):c.1602C>T (p.Asp534=)
NM_020751.3(COG6):c.1646G>T (p.Gly549Val) rs387906959
NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)
NM_020751.3(COG6):c.1692+12G>C
NM_020751.3(COG6):c.1692+14T>C
NM_020751.3(COG6):c.1692+19C>T rs200316624
NM_020751.3(COG6):c.1692+9A>G
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020751.3(COG6):c.1747-19A>G rs776576163
NM_020751.3(COG6):c.1786T>C (p.Leu596=)
NM_020751.3(COG6):c.1810C>T (p.Leu604=) rs370035888
NM_020751.3(COG6):c.1826+2T>C
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.1884T>G (p.Tyr628Ter)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.1A>G (p.Met1Val) rs752232501
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.24G>A (p.Val8=)
NM_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.370-18A>T
NM_020751.3(COG6):c.37G>A (p.Ala13Thr) rs886050224
NM_020751.3(COG6):c.388C>T (p.Gln130Ter) rs1259563970
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.540G>A (p.Glu180=) rs1593418085
NM_020751.3(COG6):c.602G>T (p.Arg201Leu) rs770351109
NM_020751.3(COG6):c.623+1G>T
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020751.3(COG6):c.663G>A (p.Thr221=) rs746682554
NM_020751.3(COG6):c.694+7G>T
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.723A>G (p.Ser241=)
NM_020751.3(COG6):c.726del (p.Cys242fs) rs1593421620
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.785A>G (p.Tyr262Cys) rs756826030
NM_020751.3(COG6):c.788+10T>A rs1876360494
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.84G>C (p.Ser28=) rs374783198
NM_020751.3(COG6):c.851C>G (p.Ala284Gly) rs148869108
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978
NM_020751.3(COG6):c.86C>T (p.Ala29Val) rs1566165324
NM_020751.3(COG6):c.870C>T (p.Pro290=)
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile) rs1428739783
NM_020751.3(COG6):c.981A>G (p.Glu327=) rs2138007330
NM_020751.3(COG6):c.989T>C (p.Leu330Ser) rs1876747862
NM_020751.3(COG6):c.993G>A (p.Lys331=)
NM_020751.3(COG6):c.9G>C (p.Glu3Asp) rs1016478271

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