ClinVar Miner

List of variants reported as uncertain significance for COG7-congenital disorder of glycosylation

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_153603.4(COG7):c.*30C>G rs200982091 0.00171
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398 0.00091
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.75C>G (p.Ser25=) rs149481813 0.00068
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.523G>T (p.Val175Leu) rs116645835 0.00042
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00032
NM_153603.4(COG7):c.2192G>A (p.Arg731His) rs149289920 0.00024
NM_153603.4(COG7):c.86C>T (p.Ala29Val) rs146918812 0.00022
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00014
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00014
NM_153603.4(COG7):c.2087C>T (p.Ala696Val) rs376170815 0.00012
NM_153603.4(COG7):c.1205C>T (p.Ala402Val) rs149533590 0.00011
NM_153603.4(COG7):c.*193G>A rs191591988 0.00010
NM_153603.4(COG7):c.754G>A (p.Gly252Arg) rs766287686 0.00010
NM_153603.4(COG7):c.1822A>G (p.Ile608Val) rs115813844 0.00009
NM_153603.4(COG7):c.1228G>A (p.Val410Ile) rs199799595 0.00008
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly) rs770639224 0.00008
NM_153603.4(COG7):c.2213C>T (p.Thr738Met) rs376359015 0.00008
NM_153603.4(COG7):c.241T>G (p.Ser81Ala) rs778408190 0.00007
NM_153603.4(COG7):c.1476-3C>T rs551490261 0.00006
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00006
NM_153603.4(COG7):c.1948T>C (p.Ser650Pro) rs761925269 0.00006
NM_153603.4(COG7):c.2297G>A (p.Arg766Gln) rs368136642 0.00006
NM_153603.4(COG7):c.581C>T (p.Ala194Val) rs557121999 0.00006
NM_153603.4(COG7):c.955G>A (p.Asp319Asn) rs767025710 0.00006
NM_153603.4(COG7):c.973G>A (p.Ala325Thr) rs116804305 0.00006
NM_153603.4(COG7):c.1475+4G>A rs372160869 0.00005
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.1388C>T (p.Thr463Met) rs764153683 0.00004
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro) rs202221877 0.00004
NM_153603.4(COG7):c.1577A>G (p.Lys526Arg) rs376579040 0.00004
NM_153603.4(COG7):c.1834C>T (p.Leu612Phe) rs756688485 0.00004
NM_153603.4(COG7):c.386A>G (p.Asp129Gly) rs150979217 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.119T>A (p.Leu40Gln) rs775575683 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1803C>T (p.Asp601=) rs1039295104 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.2068A>G (p.Met690Val) rs141629916 0.00003
NM_153603.4(COG7):c.2266C>T (p.Arg756Cys) rs199984825 0.00003
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp) rs112011340 0.00003
NM_153603.4(COG7):c.838A>G (p.Met280Val) rs778121380 0.00003
NM_153603.4(COG7):c.1405A>G (p.Ile469Val) rs751036976 0.00002
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe) rs376358218 0.00002
NM_153603.4(COG7):c.173C>G (p.Thr58Arg) rs866875812 0.00002
NM_153603.4(COG7):c.2267G>A (p.Arg756His) rs765513149 0.00002
NM_153603.4(COG7):c.829G>A (p.Glu277Lys) rs757810496 0.00002
NM_153603.4(COG7):c.1093A>G (p.Met365Val) rs1186888889 0.00001
NM_153603.4(COG7):c.109G>A (p.Ala37Thr) rs1327432623 0.00001
NM_153603.4(COG7):c.1183G>A (p.Val395Met) rs369307885 0.00001
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly) rs766815684 0.00001
NM_153603.4(COG7):c.1657C>A (p.Leu553Ile) rs1013455293 0.00001
NM_153603.4(COG7):c.1703G>A (p.Arg568Gln) rs961127814 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu) rs754431741 0.00001
NM_153603.4(COG7):c.1825G>A (p.Gly609Arg) rs369854088 0.00001
NM_153603.4(COG7):c.1970A>G (p.His657Arg) rs767518060 0.00001
NM_153603.4(COG7):c.2146+4G>C rs750266735 0.00001
NM_153603.4(COG7):c.2291C>T (p.Thr764Ile) rs1299896596 0.00001
NM_153603.4(COG7):c.2302G>A (p.Val768Met) rs754629845 0.00001
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr) rs1270268038 0.00001
NM_153603.4(COG7):c.409G>A (p.Asp137Asn) rs758676102 0.00001
NM_153603.4(COG7):c.503C>G (p.Pro168Arg) rs1385977854 0.00001
NM_153603.4(COG7):c.647G>A (p.Arg216Gln) rs766859040 0.00001
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00001
NM_153603.4(COG7):c.721C>A (p.Gln241Lys) rs758862580 0.00001
NM_153603.4(COG7):c.994C>G (p.Leu332Val) rs1355304299 0.00001
NC_000016.9:g.(?_23193865)_(23652612_?)del
NM_153603.4(COG7):c.-141C>G rs1964294802
NM_153603.4(COG7):c.1000C>T (p.Pro334Ser)
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1009C>T (p.His337Tyr)
NM_153603.4(COG7):c.103G>A (p.Gly35Ser) rs2142101336
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter)
NM_153603.4(COG7):c.1058A>G (p.Asp353Gly)
NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe)
NM_153603.4(COG7):c.108C>A (p.His36Gln)
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.110C>T (p.Ala37Val)
NM_153603.4(COG7):c.1150G>T (p.Val384Leu) rs966821454
NM_153603.4(COG7):c.1177C>T (p.His393Tyr)
NM_153603.4(COG7):c.11C>G (p.Ser4Cys)
NM_153603.4(COG7):c.1241A>G (p.Asn414Ser)
NM_153603.4(COG7):c.1255dup (p.Cys419fs)
NM_153603.4(COG7):c.1259G>C (p.Gly420Ala)
NM_153603.4(COG7):c.1259G>T (p.Gly420Val) rs773279166
NM_153603.4(COG7):c.1261C>G (p.Leu421Val) rs1596929657
NM_153603.4(COG7):c.1283T>C (p.Leu428Pro)
NM_153603.4(COG7):c.1293-5G>A
NM_153603.4(COG7):c.1293G>A (p.Lys431=) rs554871778
NM_153603.4(COG7):c.1293G>T (p.Lys431Asn)
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1307T>G (p.Phe436Cys)
NM_153603.4(COG7):c.1375del (p.Gln459fs)
NM_153603.4(COG7):c.1401C>G (p.Asn467Lys)
NM_153603.4(COG7):c.1409+6C>G
NM_153603.4(COG7):c.1410-2A>T
NM_153603.4(COG7):c.1426G>A (p.Gly476Arg)
NM_153603.4(COG7):c.1438C>T (p.Arg480Trp)
NM_153603.4(COG7):c.1448G>A (p.Gly483Glu)
NM_153603.4(COG7):c.1456G>A (p.Glu486Lys)
NM_153603.4(COG7):c.1472A>T (p.Asn491Ile)
NM_153603.4(COG7):c.1474A>T (p.Arg492Trp) rs2142070391
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys) rs1031815684
NM_153603.4(COG7):c.1522C>T (p.Arg508Trp)
NM_153603.4(COG7):c.1528C>A (p.Leu510Met)
NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)
NM_153603.4(COG7):c.1640T>A (p.Met547Lys)
NM_153603.4(COG7):c.1645A>G (p.Ile549Val)
NM_153603.4(COG7):c.1646T>C (p.Ile549Thr)
NM_153603.4(COG7):c.167A>G (p.Glu56Gly) rs977110347
NM_153603.4(COG7):c.1691T>G (p.Leu564Arg)
NM_153603.4(COG7):c.1699C>T (p.Pro567Ser)
NM_153603.4(COG7):c.1709C>T (p.Ala570Val)
NM_153603.4(COG7):c.1765C>T (p.Arg589Cys)
NM_153603.4(COG7):c.177T>G (p.Ser59Arg)
NM_153603.4(COG7):c.1804-14C>A rs768020092
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala) rs1444115658
NM_153603.4(COG7):c.1826G>A (p.Gly609Glu)
NM_153603.4(COG7):c.1872C>T (p.Leu624=)
NM_153603.4(COG7):c.1873G>A (p.Glu625Lys)
NM_153603.4(COG7):c.1873G>C (p.Glu625Gln) rs150027511
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.4(COG7):c.1946A>G (p.Asp649Gly)
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys) rs1963230461
NM_153603.4(COG7):c.1978A>G (p.Lys660Glu)
NM_153603.4(COG7):c.2003-3C>T
NM_153603.4(COG7):c.2014C>T (p.Pro672Ser)
NM_153603.4(COG7):c.2032G>T (p.Ala678Ser) rs1596904416
NM_153603.4(COG7):c.2056G>A (p.Ala686Thr)
NM_153603.4(COG7):c.2099T>C (p.Ile700Thr)
NM_153603.4(COG7):c.2106G>C (p.Glu702Asp)
NM_153603.4(COG7):c.211C>T (p.Arg71Cys)
NM_153603.4(COG7):c.2122G>A (p.Ala708Thr)
NM_153603.4(COG7):c.212G>A (p.Arg71His)
NM_153603.4(COG7):c.2153T>C (p.Leu718Pro)
NM_153603.4(COG7):c.2161G>A (p.Val721Met)
NM_153603.4(COG7):c.2185C>T (p.Pro729Ser)
NM_153603.4(COG7):c.2195C>T (p.Thr732Ile)
NM_153603.4(COG7):c.2209G>A (p.Val737Met)
NM_153603.4(COG7):c.2217A>G (p.Leu739=) rs778874347
NM_153603.4(COG7):c.2232T>A (p.Pro744=) rs1963141946
NM_153603.4(COG7):c.2243G>A (p.Arg748Lys)
NM_153603.4(COG7):c.2269C>T (p.Arg757Cys)
NM_153603.4(COG7):c.2270G>A (p.Arg757His) rs368733148
NM_153603.4(COG7):c.2281A>G (p.Thr761Ala) rs1963140690
NM_153603.4(COG7):c.2287G>T (p.Ala763Ser)
NM_153603.4(COG7):c.2293A>G (p.Met765Val)
NM_153603.4(COG7):c.229A>G (p.Lys77Glu)
NM_153603.4(COG7):c.318+1G>A rs945537370
NM_153603.4(COG7):c.318+5T>C
NM_153603.4(COG7):c.319G>A (p.Val107Met) rs550355383
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153603.4(COG7):c.373C>G (p.Leu125Val)
NM_153603.4(COG7):c.37G>T (p.Val13Leu)
NM_153603.4(COG7):c.412A>G (p.Ile138Val)
NM_153603.4(COG7):c.422C>T (p.Thr141Ile)
NM_153603.4(COG7):c.436-12G>A rs2142094162
NM_153603.4(COG7):c.436-4C>T rs1964120151
NM_153603.4(COG7):c.438C>G (p.Asp146Glu)
NM_153603.4(COG7):c.443C>G (p.Ala148Gly)
NM_153603.4(COG7):c.455C>T (p.Ala152Val)
NM_153603.4(COG7):c.577G>A (p.Val193Ile) rs1596955037
NM_153603.4(COG7):c.601G>T (p.Val201Leu)
NM_153603.4(COG7):c.604+3G>A
NM_153603.4(COG7):c.605A>G (p.Asp202Gly)
NM_153603.4(COG7):c.614A>C (p.Lys205Thr)
NM_153603.4(COG7):c.628G>A (p.Val210Met) rs202038832
NM_153603.4(COG7):c.646C>T (p.Arg216Trp) rs751918725
NM_153603.4(COG7):c.664G>A (p.Ala222Thr)
NM_153603.4(COG7):c.668A>G (p.Tyr223Cys) rs377542270
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)
NM_153603.4(COG7):c.677A>G (p.Lys226Arg)
NM_153603.4(COG7):c.687+1G>A
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)
NM_153603.4(COG7):c.734C>T (p.Ser245Phe)
NM_153603.4(COG7):c.743G>A (p.Arg248Gln)
NM_153603.4(COG7):c.748C>T (p.Leu250Phe)
NM_153603.4(COG7):c.74C>T (p.Ser25Phe)
NM_153603.4(COG7):c.758T>A (p.Leu253His) rs1413062130
NM_153603.4(COG7):c.795C>G (p.Ile265Met)
NM_153603.4(COG7):c.802G>T (p.Ala268Ser)
NM_153603.4(COG7):c.818A>G (p.Gln273Arg) rs746662903
NM_153603.4(COG7):c.845T>C (p.Leu282Pro)
NM_153603.4(COG7):c.848T>G (p.Leu283Arg)
NM_153603.4(COG7):c.901G>A (p.Gly301Ser)
NM_153603.4(COG7):c.904G>C (p.Val302Leu) rs116314856
NM_153603.4(COG7):c.922G>A (p.Glu308Lys)
NM_153603.4(COG7):c.938G>A (p.Arg313Lys)
NM_153603.4(COG7):c.951C>A (p.Phe317Leu) rs199739443
NM_153603.4(COG7):c.964G>A (p.Ala322Thr) rs201584244
NM_153603.4(COG7):c.972C>G (p.Phe324Leu) rs747262700
NM_153603.4(COG7):c.979G>A (p.Gly327Ser)
NM_153603.4(COG7):c.995T>G (p.Leu332Arg) rs756142167

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