ClinVar Miner

List of variants studied for COG8-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_032382.5(COG8):c.42A>G (p.Thr14=) rs11542583 0.30947
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_032382.5(COG8):c.578T>C (p.Val193Ala) rs138647246 0.00304
NM_032382.5(COG8):c.903C>G (p.Pro301=) rs140736262 0.00271
NM_032382.5(COG8):c.386T>C (p.Val129Ala) rs146248068 0.00101
NM_032382.5(COG8):c.5C>T (p.Ala2Val) rs151318611 0.00089
NM_032382.5(COG8):c.603G>A (p.Val201=) rs141435327 0.00076
NM_032382.5(COG8):c.1682C>T (p.Thr561Met) rs143411142 0.00053
NM_032382.5(COG8):c.1017C>T (p.Gly339=) rs72795277 0.00051
NM_032382.5(COG8):c.249C>G (p.Ala83=) rs144030835 0.00051
NM_032382.5(COG8):c.597C>T (p.Asn199=) rs113642086 0.00044
NM_032382.5(COG8):c.1467C>T (p.Ser489=) rs138741747 0.00043
NM_032382.5(COG8):c.1724C>T (p.Thr575Ile) rs201914539 0.00034
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_032382.5(COG8):c.19A>G (p.Ile7Val) rs200765847 0.00031
NM_032382.5(COG8):c.1079G>A (p.Gly360Glu) rs142169776 0.00030
NM_032382.5(COG8):c.1620A>C (p.Leu540=) rs189199610 0.00030
NM_032382.5(COG8):c.886G>A (p.Glu296Lys) rs149850861 0.00019
NM_032382.5(COG8):c.1549C>G (p.Leu517Val) rs138398268 0.00015
NM_032382.5(COG8):c.1373C>T (p.Ala458Val) rs149531391 0.00013
NM_032382.5(COG8):c.525G>A (p.Leu175=) rs187905134 0.00013
NM_032382.5(COG8):c.522C>T (p.Ala174=) rs375227294 0.00011
NM_032382.5(COG8):c.1305C>T (p.Leu435=) rs760557680 0.00007
NM_032382.5(COG8):c.741T>G (p.Phe247Leu) rs142530290 0.00006
NM_032382.5(COG8):c.996C>T (p.Thr332=) rs571595612 0.00006
NM_032382.5(COG8):c.1006C>T (p.Arg336Trp) rs757877420 0.00005
NM_032382.5(COG8):c.1785C>T (p.Cys595=) rs761610722 0.00005
NM_032382.5(COG8):c.307C>T (p.Leu103=) rs374827814 0.00005
NM_032382.5(COG8):c.704T>C (p.Met235Thr) rs201646246 0.00005
NM_032382.5(COG8):c.914G>A (p.Gly305Asp) rs941763771 0.00005
NM_032382.5(COG8):c.1128C>G (p.Ile376Met) rs772243923 0.00004
NM_032382.5(COG8):c.894A>C (p.Pro298=) rs767660926 0.00004
NM_032382.5(COG8):c.151C>T (p.Arg51Trp) rs1057521994 0.00003
NM_032382.5(COG8):c.380A>G (p.Asn127Ser) rs753893688 0.00003
NM_032382.5(COG8):c.1018G>A (p.Gly340Ser) rs780027868 0.00002
NM_032382.5(COG8):c.1259C>T (p.Pro420Leu) rs746290111 0.00002
NM_032382.5(COG8):c.1398A>G (p.Glu466=) rs369610000 0.00002
NM_032382.5(COG8):c.1443C>T (p.Arg481=) rs113368039 0.00002
NM_032382.5(COG8):c.1473G>A (p.Glu491=) rs752727817 0.00002
NM_032382.5(COG8):c.309G>C (p.Leu103=) rs574310735 0.00002
NM_032382.5(COG8):c.673T>G (p.Cys225Gly) rs761059594 0.00002
NM_032382.5(COG8):c.1348C>T (p.Arg450Cys) rs776576528 0.00001
NM_032382.5(COG8):c.1488C>A (p.Val496=) rs759654404 0.00001
NM_032382.5(COG8):c.1666C>T (p.Leu556=) rs1322293570 0.00001
NM_032382.5(COG8):c.1793G>A (p.Gly598Glu) rs774046470 0.00001
NM_032382.5(COG8):c.377+14G>A rs2012381432 0.00001
NM_032382.5(COG8):c.416G>A (p.Arg139His) rs762499740 0.00001
NM_032382.5(COG8):c.558G>A (p.Arg186=) rs754606895 0.00001
NM_032382.5(COG8):c.697C>T (p.Arg233Trp) rs779008742 0.00001
NM_032382.5(COG8):c.698G>A (p.Arg233Gln) rs1017255729 0.00001
NM_032382.5(COG8):c.700C>T (p.Arg234Cys) rs751431041 0.00001
NM_032382.5(COG8):c.919C>T (p.His307Tyr) rs372889874 0.00001
NM_032382.5(COG8):c.979C>T (p.Leu327=) rs146417943 0.00001
NM_032382.5(COG8):c.997G>A (p.Asp333Asn) rs759864228 0.00001
NM_032382.5(COG8):c.1072C>A (p.Arg358=)
NM_032382.5(COG8):c.1095T>C (p.Gly365=)
NM_032382.5(COG8):c.1258C>T (p.Pro420Ser) rs2012085868
NM_032382.5(COG8):c.12G>T (p.Ala4=) rs756986120
NM_032382.5(COG8):c.132C>G (p.Pro44=)
NM_032382.5(COG8):c.133G>C (p.Asp45His)
NM_032382.5(COG8):c.1340A>G (p.Asn447Ser) rs759388730
NM_032382.5(COG8):c.1413+12C>G rs977274573
NM_032382.5(COG8):c.1468G>T (p.Gly490Trp) rs202134146
NM_032382.5(COG8):c.147C>T (p.Tyr49=) rs1597227398
NM_032382.5(COG8):c.1551T>G (p.Leu517=)
NM_032382.5(COG8):c.1583-6G>A
NM_032382.5(COG8):c.1583-6G>T
NM_032382.5(COG8):c.164G>C (p.Gly55Ala)
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs) rs780534334
NM_032382.5(COG8):c.1686T>C (p.Leu562=)
NM_032382.5(COG8):c.1715C>A (p.Pro572His) rs2143319909
NM_032382.5(COG8):c.1755G>C (p.Glu585Asp) rs1443367772
NM_032382.5(COG8):c.1794A>C (p.Gly598=)
NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)
NM_032382.5(COG8):c.1833dup (p.Pro612fs) rs1597221180
NM_032382.5(COG8):c.192G>T (p.Glu64Asp)
NM_032382.5(COG8):c.193C>A (p.Pro65Thr)
NM_032382.5(COG8):c.240C>T (p.Arg80=)
NM_032382.5(COG8):c.24A>G (p.Pro8=) rs538076531
NM_032382.5(COG8):c.252C>T (p.Phe84=)
NM_032382.5(COG8):c.357C>G (p.Pro119=)
NM_032382.5(COG8):c.378-11A>G
NM_032382.5(COG8):c.419G>A (p.Arg140Gln) rs375728590
NM_032382.5(COG8):c.440A>G (p.Asn147Ser) rs543723269
NM_032382.5(COG8):c.474T>G (p.Ile158Met)
NM_032382.5(COG8):c.507T>G (p.Ser169Arg)
NM_032382.5(COG8):c.540C>T (p.Tyr180=)
NM_032382.5(COG8):c.585+1G>T rs1597225261
NM_032382.5(COG8):c.598G>C (p.Glu200Gln)
NM_032382.5(COG8):c.645A>G (p.Gln215=)
NM_032382.5(COG8):c.663G>C (p.Gln221His) rs2012143678
NM_032382.5(COG8):c.66G>A (p.Glu22=)
NM_032382.5(COG8):c.766C>G (p.Arg256Gly) rs370783972
NM_032382.5(COG8):c.810T>C (p.His270=)
NM_032382.5(COG8):c.825C>T (p.Ile275=) rs147094162
NM_032382.5(COG8):c.913G>T (p.Gly305Cys) rs1567431851

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