ClinVar Miner

List of variants in gene COG4 reported as uncertain significance for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.539A>G (p.Lys180Arg) rs138693104 0.00036
NM_015386.3(COG4):c.1894T>C (p.Phe632Leu) rs138701123 0.00021
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln) rs200052272 0.00014
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser) rs200259754 0.00012
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.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.151G>C (p.Glu51Gln) rs201370408 0.00004
NM_015386.3(COG4):c.1838C>T (p.Thr613Met) rs755376017 0.00004
NM_015386.3(COG4):c.2041G>A (p.Gly681Ser) rs547599836 0.00004
NM_015386.3(COG4):c.1309A>G (p.Asn437Asp) rs370589898 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.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.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.1624G>T (p.Asp542Tyr) rs777169655 0.00001
NM_015386.3(COG4):c.1631C>T (p.Ala544Val) rs886052258 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.2104C>T (p.Arg702Trp) rs776426825 0.00001
NM_015386.3(COG4):c.2358G>C (p.Arg786Ser) rs760163512 0.00001
NM_015386.3(COG4):c.496T>G (p.Leu166Val) rs1413305790 0.00001
NM_015386.3(COG4):c.1064A>T (p.Glu355Val)
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.1663G>A (p.Val555Met)
NM_015386.3(COG4):c.169G>A (p.Glu57Lys)
NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)
NM_015386.3(COG4):c.1816G>C (p.Asp606His) rs2151739637
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.2106+4A>G
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.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.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.310T>G (p.Phe104Val)
NM_015386.3(COG4):c.35C>T (p.Pro12Leu) rs146758430
NM_015386.3(COG4):c.369G>A (p.Lys123=)
NM_015386.3(COG4):c.379T>C (p.Tyr127His) rs1276662286
NM_015386.3(COG4):c.397G>A (p.Ala133Thr)
NM_015386.3(COG4):c.484_485inv (p.Thr162Val)
NM_015386.3(COG4):c.619T>C (p.Phe207Leu)
NM_015386.3(COG4):c.625A>G (p.Ile209Val)
NM_015386.3(COG4):c.722A>G (p.Glu241Gly)
NM_015386.3(COG4):c.793G>A (p.Asp265Asn)
NM_015386.3(COG4):c.83G>T (p.Arg28Leu) rs1246610468
NM_015386.3(COG4):c.863A>G (p.Glu288Gly) rs2049650498

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