ClinVar Miner

List of variants in gene COG1 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: 138
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221 0.00134
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys) rs143051453 0.00058
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802 0.00021
NM_018714.3(COG1):c.2362T>C (p.Ser788Pro) rs546366531 0.00016
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu) rs1011259443 0.00013
NM_018714.3(COG1):c.560+15C>T rs201364732 0.00013
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949 0.00012
NM_018714.3(COG1):c.384G>A (p.Pro128=) rs142827255 0.00012
NM_018714.3(COG1):c.542C>T (p.Ala181Val) rs534708439 0.00012
NM_018714.3(COG1):c.2511-5C>G rs201123101 0.00011
NM_018714.3(COG1):c.2619+11T>A rs144115463 0.00011
NM_018714.3(COG1):c.1688C>T (p.Ala563Val) rs375617141 0.00010
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln) rs149030357 0.00009
NM_018714.3(COG1):c.1722C>T (p.Ser574=) rs149888309 0.00009
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg) rs199752799 0.00009
NM_018714.3(COG1):c.838C>A (p.Leu280Met) rs140691967 0.00009
NM_018714.3(COG1):c.2752A>G (p.Met918Val) rs201733537 0.00008
NM_018714.3(COG1):c.1744G>A (p.Val582Met) rs778769386 0.00007
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser) rs139676777 0.00006
NM_018714.3(COG1):c.728A>G (p.Asn243Ser) rs368856790 0.00006
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959 0.00005
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln) rs769310036 0.00004
NM_018714.3(COG1):c.2074-3C>G rs372888977 0.00004
NM_018714.3(COG1):c.427G>A (p.Ala143Thr) rs747933899 0.00004
NM_018714.3(COG1):c.655G>C (p.Glu219Gln) rs201963725 0.00004
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala) rs139330442 0.00003
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser) rs140675600 0.00002
NM_018714.3(COG1):c.1784G>T (p.Gly595Val) rs752197597 0.00002
NM_018714.3(COG1):c.1890G>A (p.Gln630=) rs146046236 0.00002
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp) rs144316008 0.00002
NM_018714.3(COG1):c.394T>C (p.Trp132Arg) rs569882797 0.00002
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) rs886053369 0.00001
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser) rs1451680348 0.00001
NM_018714.3(COG1):c.1474G>A (p.Val492Met) rs565847659 0.00001
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp) rs779677895 0.00001
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser) rs770925715 0.00001
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr) rs1485609633 0.00001
NM_018714.3(COG1):c.1689G>A (p.Ala563=) rs1313968056 0.00001
NM_018714.3(COG1):c.1695C>T (p.Thr565=) rs760702621 0.00001
NM_018714.3(COG1):c.1723G>A (p.Val575Met) rs755592132 0.00001
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg) rs1230710369 0.00001
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile) rs936131075 0.00001
NM_018714.3(COG1):c.2035G>A (p.Val679Met) rs1229728305 0.00001
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp) rs766057419 0.00001
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln) rs749884441 0.00001
NM_018714.3(COG1):c.2382+4G>A rs1047192668 0.00001
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr) rs138801104 0.00001
NM_018714.3(COG1):c.2600G>A (p.Arg867His) rs374341080 0.00001
NM_018714.3(COG1):c.2675C>T (p.Thr892Met) rs751977123 0.00001
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684 0.00001
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) rs774479733 0.00001
NM_018714.3(COG1):c.505G>A (p.Val169Ile) rs761121843 0.00001
NM_018714.3(COG1):c.671G>A (p.Arg224His) rs1434730052 0.00001
NM_018714.3(COG1):c.791C>T (p.Thr264Ile) rs367884440 0.00001
NM_018714.3(COG1):c.828G>T (p.Leu276Phe) rs769317853 0.00001
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
NM_018714.3(COG1):c.1343C>T (p.Ala448Val) rs1372546537
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del) rs1354666647
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg) rs2145097990
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr) rs2145098238
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly) rs2145098272
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly) rs2145098299
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp) rs1037256
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)
NM_018714.3(COG1):c.1826A>C (p.His609Pro)
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp) rs772385793
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg)
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile) rs2145098550
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser)
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp)
NM_018714.3(COG1):c.2008G>A (p.Val670Ile)
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del) rs398124346
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile)
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr) rs1232713937
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro)
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) rs1599328658
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile) rs2145100344
NM_018714.3(COG1):c.218C>A (p.Ala73Asp)
NM_018714.3(COG1):c.2216C>T (p.Ala739Val)
NM_018714.3(COG1):c.2383-17_2383-16inv
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr) rs2061367152
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser)
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser) rs2145105028
NM_018714.3(COG1):c.2597A>G (p.His866Arg) rs555212855
NM_018714.3(COG1):c.2605G>A (p.Val869Met) rs886053370
NM_018714.3(COG1):c.2606T>G (p.Val869Gly) rs1599331791
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg) rs751977123
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys) rs1468033790
NM_018714.3(COG1):c.2729+3_2729+9del rs771485996
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.334_336del (p.Glu112del)
NM_018714.3(COG1):c.403A>T (p.Met135Leu)
NM_018714.3(COG1):c.448T>A (p.Cys150Ser)
NM_018714.3(COG1):c.494G>A (p.Arg165Gln) rs777018719
NM_018714.3(COG1):c.509T>C (p.Leu170Pro) rs2145092629
NM_018714.3(COG1):c.511T>C (p.Ser171Pro)
NM_018714.3(COG1):c.514C>T (p.Arg172Trp)
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
NM_018714.3(COG1):c.560G>A (p.Arg187Gln)
NM_018714.3(COG1):c.561-6T>G
NM_018714.3(COG1):c.565A>G (p.Thr189Ala) rs193248551
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr) rs2145093008
NM_018714.3(COG1):c.599G>C (p.Cys200Ser)
NM_018714.3(COG1):c.622G>A (p.Val208Met)
NM_018714.3(COG1):c.626C>T (p.Ala209Val)
NM_018714.3(COG1):c.628G>A (p.Glu210Lys)
NM_018714.3(COG1):c.628G>C (p.Glu210Gln) rs567533944
NM_018714.3(COG1):c.649C>G (p.Leu217Val)
NM_018714.3(COG1):c.701G>A (p.Arg234Lys)
NM_018714.3(COG1):c.733C>T (p.Pro245Ser) rs1486692795
NM_018714.3(COG1):c.833_835del (p.Glu278del)
NM_018714.3(COG1):c.847G>A (p.Asp283Asn) rs2145093457
NM_018714.3(COG1):c.850C>T (p.Pro284Ser)
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.907C>T (p.Pro303Ser) rs750659961
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)

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