ClinVar Miner

List of variants in gene COG4 studied for disorder of multiple glycosylation

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_015386.3(COG4):c.1314+86A>C rs2303791 0.62527
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_015386.3(COG4):c.1482-25T>C rs2303793 0.46944
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_015386.3(COG4):c.171+18T>C rs16970260 0.13009
NM_015386.3(COG4):c.739-9C>G rs16970243 0.11989
NM_015386.3(COG4):c.544+19T>A rs74324138 0.05339
NM_015386.3(COG4):c.1195+8C>T rs80034177 0.03426
NM_015386.3(COG4):c.1710+17C>G rs74026056 0.02905
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_015386.3(COG4):c.2163G>A (p.Thr721=) rs150547677 0.00801
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_015386.3(COG4):c.1560C>T (p.Ala520=) rs115668774 0.00183
NM_015386.3(COG4):c.1017G>A (p.Gln339=) rs138874791 0.00177
NM_015386.3(COG4):c.897G>A (p.Gly299=) rs138661425 0.00156
NM_015386.3(COG4):c.592C>T (p.Arg198Cys) rs118183032 0.00133
NM_015386.3(COG4):c.171+3G>A rs368602741 0.00061
NM_015386.3(COG4):c.539A>G (p.Lys180Arg) rs138693104 0.00036
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly) rs201323781 0.00030
NM_015386.3(COG4):c.1074C>T (p.Pro358=) rs200278473 0.00021
NM_015386.3(COG4):c.1894T>C (p.Phe632Leu) rs138701123 0.00021
NM_015386.3(COG4):c.558T>C (p.Asp186=) rs376885733 0.00018
NM_015386.3(COG4):c.1123C>T (p.Arg375Cys) rs140920304 0.00016
NM_015386.3(COG4):c.513G>A (p.Ser171=) rs369063742 0.00016
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln) rs200052272 0.00014
NM_015386.3(COG4):c.1005C>T (p.Phe335=) rs183569708 0.00012
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser) rs200259754 0.00012
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu) rs189821897 0.00011
NM_015386.3(COG4):c.2247C>A (p.Ile749=) rs767522005 0.00011
NM_015386.3(COG4):c.1106G>A (p.Arg369His) rs146268306 0.00010
NM_015386.3(COG4):c.1931A>G (p.Asn644Ser) rs144763147 0.00010
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn) rs200083914 0.00009
NM_015386.3(COG4):c.369+13G>T rs199761750 0.00009
NM_015386.3(COG4):c.593G>A (p.Arg198His) rs373443427 0.00009
NM_015386.3(COG4):c.349C>T (p.Arg117Cys) rs149620212 0.00008
NM_015386.3(COG4):c.1208G>A (p.Cys403Tyr) rs542338317 0.00006
NM_015386.3(COG4):c.1827+12G>C rs372162273 0.00006
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_015386.3(COG4):c.1128C>A (p.Phe376Leu) rs768897804 0.00004
NM_015386.3(COG4):c.1481+12T>C rs765239084 0.00004
NM_015386.3(COG4):c.151G>C (p.Glu51Gln) rs201370408 0.00004
NM_015386.3(COG4):c.1605A>C (p.Thr535=) rs751237267 0.00004
NM_015386.3(COG4):c.1711-10T>C rs375556502 0.00004
NM_015386.3(COG4):c.1838C>T (p.Thr613Met) rs755376017 0.00004
NM_015386.3(COG4):c.1839G>A (p.Thr613=) rs565871794 0.00004
NM_015386.3(COG4):c.2041G>A (p.Gly681Ser) rs547599836 0.00004
NM_015386.3(COG4):c.123A>G (p.Thr41=) rs770026002 0.00003
NM_015386.3(COG4):c.1314+14C>T rs189538469 0.00003
NM_015386.3(COG4):c.1632G>A (p.Ala544=) rs771255200 0.00003
NM_015386.3(COG4):c.2278T>C (p.Leu760=) rs113010015 0.00003
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr) rs573621071 0.00002
NM_015386.3(COG4):c.1309A>G (p.Asn437Asp) rs370589898 0.00002
NM_015386.3(COG4):c.1647+20C>T rs745843280 0.00002
NM_015386.3(COG4):c.1900G>A (p.Val634Ile) rs772560552 0.00002
NM_015386.3(COG4):c.751G>A (p.Ala251Thr) rs771178085 0.00002
NM_015386.3(COG4):c.811A>G (p.Ile271Val) rs551058375 0.00002
NM_015386.3(COG4):c.1054G>A (p.Glu352Lys) rs779083895 0.00001
NM_015386.3(COG4):c.1124G>A (p.Arg375His) rs762087790 0.00001
NM_015386.3(COG4):c.1141A>G (p.Ile381Val) rs769825493 0.00001
NM_015386.3(COG4):c.1202A>G (p.Gln401Arg) rs759768980 0.00001
NM_015386.3(COG4):c.1314+15G>A rs760842896 0.00001
NM_015386.3(COG4):c.1358G>T (p.Ser453Ile) rs149376914 0.00001
NM_015386.3(COG4):c.1415G>A (p.Ser472Asn) rs372362031 0.00001
NM_015386.3(COG4):c.1482-7C>G rs2049341542 0.00001
NM_015386.3(COG4):c.150C>T (p.Tyr50=) rs200747786 0.00001
NM_015386.3(COG4):c.1536C>T (p.Asp512=) rs1330420100 0.00001
NM_015386.3(COG4):c.1624G>T (p.Asp542Tyr) rs777169655 0.00001
NM_015386.3(COG4):c.1631C>T (p.Ala544Val) rs886052258 0.00001
NM_015386.3(COG4):c.172-14T>A rs533486299 0.00001
NM_015386.3(COG4):c.1798G>A (p.Val600Met) rs767599010 0.00001
NM_015386.3(COG4):c.1875G>T (p.Gln625His) rs765074288 0.00001
NM_015386.3(COG4):c.2067C>T (p.Val689=) rs376705726 0.00001
NM_015386.3(COG4):c.2104C>T (p.Arg702Trp) rs776426825 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_015386.3(COG4):c.2268T>C (p.Asn756=) rs1056975658 0.00001
NM_015386.3(COG4):c.2343T>C (p.Ser781=) rs987662091 0.00001
NM_015386.3(COG4):c.2358G>C (p.Arg786Ser) rs760163512 0.00001
NM_015386.3(COG4):c.339C>T (p.Ser113=) rs1178516238 0.00001
NM_015386.3(COG4):c.496T>G (p.Leu166Val) rs1413305790 0.00001
NM_015386.3(COG4):c.529C>T (p.Arg177Ter) rs376663459 0.00001
NM_015386.3(COG4):c.1002+13A>G
NM_015386.3(COG4):c.1006C>T (p.Arg336Trp)
NM_015386.3(COG4):c.1051dup (p.Ile351fs)
NM_015386.3(COG4):c.1064A>T (p.Glu355Val)
NM_015386.3(COG4):c.1116A>G (p.Leu372=)
NM_015386.3(COG4):c.1195+16A>G
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter) rs2151749755
NM_015386.3(COG4):c.128T>C (p.Leu43Pro)
NM_015386.3(COG4):c.1290C>A (p.Tyr430Ter)
NM_015386.3(COG4):c.1314+12G>A
NM_015386.3(COG4):c.1315-6G>T
NM_015386.3(COG4):c.1369G>T (p.Asp457Tyr)
NM_015386.3(COG4):c.1434C>G (p.Leu478=)
NM_015386.3(COG4):c.1464G>T (p.Glu488Asp) rs2151749287
NM_015386.3(COG4):c.1472C>G (p.Ser491Cys) rs1567729648
NM_015386.3(COG4):c.1542G>T (p.Gln514His) rs2049339762
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1608del (p.Gly537fs)
NM_015386.3(COG4):c.1647+13C>T
NM_015386.3(COG4):c.1648-12C>T rs770851169
NM_015386.3(COG4):c.1648-9A>C rs777747818
NM_015386.3(COG4):c.1663G>A (p.Val555Met)
NM_015386.3(COG4):c.169G>A (p.Glu57Lys)
NM_015386.3(COG4):c.171+10C>A rs773672255
NM_015386.3(COG4):c.172-11C>T
NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)
NM_015386.3(COG4):c.1816G>C (p.Asp606His) rs2151739637
NM_015386.3(COG4):c.1839G>C (p.Thr613=)
NM_015386.3(COG4):c.1950C>T (p.Asp650=)
NM_015386.3(COG4):c.1978C>T (p.Leu660=)
NM_015386.3(COG4):c.2004+10G>A
NM_015386.3(COG4):c.2005-10C>G
NM_015386.3(COG4):c.2026T>C (p.Tyr676His) rs2151737380
NM_015386.3(COG4):c.2029G>A (p.Asp677Asn)
NM_015386.3(COG4):c.2076G>T (p.Glu692Asp)
NM_015386.3(COG4):c.2081T>C (p.Val694Ala)
NM_015386.3(COG4):c.2083G>T (p.Val695Leu) rs1597651455
NM_015386.3(COG4):c.2105G>T (p.Arg702Leu)
NM_015386.3(COG4):c.2106+4A>G
NM_015386.3(COG4):c.2107-18G>A rs2151736985
NM_015386.3(COG4):c.2114G>C (p.Gly705Ala) rs2151736960
NM_015386.3(COG4):c.2141C>G (p.Ser714Trp) rs751809847
NM_015386.3(COG4):c.2215A>G (p.Thr739Ala)
NM_015386.3(COG4):c.2236-16A>G rs17879608
NM_015386.3(COG4):c.2236G>A (p.Val746Met)
NM_015386.3(COG4):c.2282C>T (p.Thr761Met)
NM_015386.3(COG4):c.2293A>G (p.Thr765Ala)
NM_015386.3(COG4):c.2310C>G (p.Arg770=) rs533161794
NM_015386.3(COG4):c.2318T>G (p.Leu773Arg) rs387907203
NM_015386.3(COG4):c.233T>C (p.Met78Thr) rs2151765539
NM_015386.3(COG4):c.2342G>A (p.Ser781Asn)
NM_015386.3(COG4):c.248G>A (p.Arg83Gln) rs374037904
NM_015386.3(COG4):c.265C>A (p.Gln89Lys)
NM_015386.3(COG4):c.266_267inv (p.Gln89Pro)
NM_015386.3(COG4):c.310T>G (p.Phe104Val)
NM_015386.3(COG4):c.320A>G (p.Asn107Ser)
NM_015386.3(COG4):c.327T>C (p.Ala109=)
NM_015386.3(COG4):c.35C>T (p.Pro12Leu) rs146758430
NM_015386.3(COG4):c.369+1_369+2del rs1311924956
NM_015386.3(COG4):c.369G>A (p.Lys123=)
NM_015386.3(COG4):c.370-19G>A
NM_015386.3(COG4):c.372C>T (p.Asn124=)
NM_015386.3(COG4):c.379T>C (p.Tyr127His) rs1276662286
NM_015386.3(COG4):c.397G>A (p.Ala133Thr)
NM_015386.3(COG4):c.398C>T (p.Ala133Val)
NM_015386.3(COG4):c.40C>A (p.Leu14Met)
NM_015386.3(COG4):c.434G>C (p.Gly145Ala)
NM_015386.3(COG4):c.484_485inv (p.Thr162Val)
NM_015386.3(COG4):c.494A>G (p.Tyr165Cys)
NM_015386.3(COG4):c.501C>T (p.Cys167=)
NM_015386.3(COG4):c.510G>A (p.Lys170=)
NM_015386.3(COG4):c.517A>T (p.Ile173Phe)
NM_015386.3(COG4):c.543G>A (p.Glu181=)
NM_015386.3(COG4):c.544+1G>T rs540632609
NM_015386.3(COG4):c.58C>T (p.Pro20Ser)
NM_015386.3(COG4):c.599_600del (p.Lys200fs) rs2049726544
NM_015386.3(COG4):c.619T>C (p.Phe207Leu)
NM_015386.3(COG4):c.625A>G (p.Ile209Val)
NM_015386.3(COG4):c.68G>A (p.Gly23Glu)
NM_015386.3(COG4):c.697G>T (p.Glu233Ter) rs387907202
NM_015386.3(COG4):c.6G>A (p.Gly2=)
NM_015386.3(COG4):c.6del (p.Thr3fs) rs937887233
NM_015386.3(COG4):c.722A>G (p.Glu241Gly)
NM_015386.3(COG4):c.739-8T>C
NM_015386.3(COG4):c.73G>T (p.Gly25Ter) rs1249789100
NM_015386.3(COG4):c.748A>G (p.Lys250Glu)
NM_015386.3(COG4):c.793G>A (p.Asp265Asn)
NM_015386.3(COG4):c.83G>T (p.Arg28Leu) rs1246610468
NM_015386.3(COG4):c.845-19A>G
NM_015386.3(COG4):c.853C>T (p.Arg285Cys)
NM_015386.3(COG4):c.863A>G (p.Glu288Gly) rs2049650498
NM_015386.3(COG4):c.883G>T (p.Glu295Ter) rs2151758219
NM_015386.3(COG4):c.897G>T (p.Gly299=)
NM_015386.3(COG4):c.941G>A (p.Cys314Tyr) rs2151758141

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