ClinVar Miner

List of variants in gene COG6 studied for COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28236
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 0.03044
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.1693-7_1693-6del rs1491507046 0.00273
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00261
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_020751.3(COG6):c.320A>T (p.Asp107Val) rs146229425 0.00183
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 0.00094
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.*1532T>G rs61954232 0.00042
NM_020751.3(COG6):c.370-18A>G rs184193902 0.00042
NM_020751.3(COG6):c.1233A>G (p.Lys411=) rs201806513 0.00032
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00031
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978 0.00026
NM_020751.3(COG6):c.1263T>C (p.His421=) rs147295042 0.00024
NM_020751.3(COG6):c.1075-12A>C rs370228676 0.00016
NM_020751.3(COG6):c.261T>C (p.Asn87=) rs146261996 0.00015
NM_020751.3(COG6):c.298-1G>A rs75701196 0.00013
NM_020751.3(COG6):c.1533A>T (p.Thr511=) rs201542120 0.00012
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 0.00012
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr) rs201922229 0.00011
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 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.1760G>A (p.Arg587His) rs191156299 0.00009
NM_020751.3(COG6):c.1140C>T (p.Leu380=) rs772945485 0.00007
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) rs756742630 0.00007
NM_020751.3(COG6):c.203G>A (p.Ser68Asn) rs780705604 0.00007
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.1738G>A (p.Ala580Thr) rs773262760 0.00004
NM_020751.3(COG6):c.336C>T (p.Ser112=) rs111943857 0.00004
NM_020751.3(COG6):c.694+7G>T rs377452864 0.00004
NM_020751.3(COG6):c.939T>C (p.Ala313=) rs550755756 0.00004
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser) rs1014433615 0.00003
NM_020751.3(COG6):c.134C>T (p.Thr45Met) rs545371712 0.00003
NM_020751.3(COG6):c.1692+9A>G rs374334273 0.00003
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00003
NM_020751.3(COG6):c.556C>A (p.Leu186Met) rs781524524 0.00003
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020751.3(COG6):c.739G>A (p.Val247Ile) rs140802175 0.00003
NM_020751.3(COG6):c.870C>T (p.Pro290=) rs145427916 0.00003
NM_020751.3(COG6):c.119A>G (p.His40Arg) rs148246113 0.00002
NM_020751.3(COG6):c.1362A>G (p.Ala454=) rs772294548 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.154-12C>T rs368678409 0.00002
NM_020751.3(COG6):c.1542A>G (p.Leu514=) rs374170693 0.00002
NM_020751.3(COG6):c.1558A>C (p.Arg520=) rs760219472 0.00002
NM_020751.3(COG6):c.1836C>T (p.Ile612=) rs998494134 0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs) rs1486717174 0.00002
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.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.1286T>C (p.Val429Ala) rs779342482 0.00001
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00001
NM_020751.3(COG6):c.1585-2A>G rs200812708 0.00001
NM_020751.3(COG6):c.1587C>T (p.Ile529=) rs756253977 0.00001
NM_020751.3(COG6):c.1786T>C (p.Leu596=) rs1352367930 0.00001
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771 0.00001
NM_020751.3(COG6):c.303T>C (p.Leu101=) rs764185523 0.00001
NM_020751.3(COG6):c.53A>G (p.Asn18Ser) rs2137932213 0.00001
NM_020751.3(COG6):c.697G>A (p.Glu233Lys) rs745501973 0.00001
NM_020751.3(COG6):c.788+5G>A rs915042964 0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser) rs748959066 0.00001
NM_020751.3(COG6):c.871G>A (p.Gly291Arg) rs778787139 0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) rs754624882 0.00001
NM_020751.3(COG6):c.993G>A (p.Lys331=) rs761181581 0.00001
NM_020751.3(COG6):c.*315del rs142947196
NM_020751.3(COG6):c.1026T>G (p.Ile342Met)
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.1140C>G (p.Leu380=) rs772945485
NM_020751.3(COG6):c.1242C>T (p.Phe414=) rs2138033067
NM_020751.3(COG6):c.1285-10C>T
NM_020751.3(COG6):c.1357T>C (p.Leu453=) rs2138074922
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg) rs781499017
NM_020751.3(COG6):c.153+11C>A rs371609631
NM_020751.3(COG6):c.153+15C>T
NM_020751.3(COG6):c.1602C>T (p.Asp534=) rs2500683616
NM_020751.3(COG6):c.1692+12G>C rs2500684256
NM_020751.3(COG6):c.1692+14T>C rs1878962134
NM_020751.3(COG6):c.1692+19C>T rs200316624
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.172A>G (p.Lys58Glu) rs1489569773
NM_020751.3(COG6):c.1746+14A>G
NM_020751.3(COG6):c.1747-19A>G rs776576163
NM_020751.3(COG6):c.1826+3A>C rs768907183
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys) rs143645489
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs) rs2500752834
NM_020751.3(COG6):c.24G>A (p.Val8=) rs2500518447
NM_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.285G>A (p.Lys95=)
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.369+23dup
NM_020751.3(COG6):c.370-18A>T rs184193902
NM_020751.3(COG6):c.428+18C>T
NM_020751.3(COG6):c.429-13T>C
NM_020751.3(COG6):c.535A>G (p.Thr179Ala) rs1322763277
NM_020751.3(COG6):c.585T>C (p.Asp195=)
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.651_654del (p.Leu217fs) rs1345713239
NM_020751.3(COG6):c.695-20T>C
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=) rs2500584041
NM_020751.3(COG6):c.766C>A (p.Gln256Lys) rs138597241
NM_020751.3(COG6):c.788+10T>A rs1876360494
NM_020751.3(COG6):c.80C>G (p.Thr27Ser) rs776763438
NM_020751.3(COG6):c.84G>C (p.Ser28=) rs374783198
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.917+19A>G
NM_020751.3(COG6):c.924A>G (p.Val308=)
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.9G>C (p.Glu3Asp) rs1016478271

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