ClinVar Miner

List of variants in gene COG1 reported as likely benign for COG1 congenital disorder of glycosylation

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655 0.00545
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067 0.00469
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.1710G>A (p.Leu570=) rs139407216 0.00047
NM_018714.3(COG1):c.2418G>A (p.Ala806=) rs141305065 0.00046
NM_018714.3(COG1):c.743-10C>G rs185592690 0.00046
NM_018714.3(COG1):c.1350G>A (p.Gln450=) rs143699348 0.00038
NM_018714.3(COG1):c.2406C>T (p.Thr802=) rs149083729 0.00024
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802 0.00021
NM_018714.3(COG1):c.2073+17C>T rs375124338 0.00017
NM_018714.3(COG1):c.560+15C>T rs201364732 0.00013
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg) rs763484856 0.00012
NM_018714.3(COG1):c.384G>A (p.Pro128=) rs142827255 0.00012
NM_018714.3(COG1):c.2511-5C>G rs201123101 0.00011
NM_018714.3(COG1):c.1722C>T (p.Ser574=) rs149888309 0.00009
NM_018714.3(COG1):c.546C>T (p.Ala182=) rs768914690 0.00009
NM_018714.3(COG1):c.613G>A (p.Asp205Asn) rs141474045 0.00009
NM_018714.3(COG1):c.402G>A (p.Ser134=) rs765699770 0.00008
NM_018714.3(COG1):c.2620-11_2620-10del rs780690910 0.00007
NM_018714.3(COG1):c.258C>T (p.Tyr86=) rs60688184 0.00006
NM_018714.3(COG1):c.575A>C (p.His192Pro) rs141340733 0.00005
NM_018714.3(COG1):c.2220+18G>C rs1267855413 0.00004
NM_018714.3(COG1):c.2781C>T (p.Thr927=) rs567297928 0.00004
NM_018714.3(COG1):c.2790C>T (p.Ile930=) rs770966526 0.00003
NM_018714.3(COG1):c.1890G>A (p.Gln630=) rs146046236 0.00002
NM_018714.3(COG1):c.2514T>C (p.Ile838=) rs917892922 0.00002
NM_018714.3(COG1):c.261C>T (p.Cys87=) rs1187216995 0.00001
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684 0.00001
NM_018714.3(COG1):c.504C>T (p.Pro168=) rs773716192 0.00001
NM_018714.3(COG1):c.705G>A (p.Lys235=) rs1384297418 0.00001
NM_018714.3(COG1):c.1282-15C>G
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
NM_018714.3(COG1):c.1767A>G (p.Leu589=) rs2145098268
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
NM_018714.3(COG1):c.2052C>A (p.Val684=) rs2145098651
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
NM_018714.3(COG1):c.2220+14A>G
NM_018714.3(COG1):c.2220+15T>C
NM_018714.3(COG1):c.2220+15T>G
NM_018714.3(COG1):c.2220+18del rs1246223880
NM_018714.3(COG1):c.2220+9G>A
NM_018714.3(COG1):c.2361C>G (p.Leu787=)
NM_018714.3(COG1):c.2383-10T>C
NM_018714.3(COG1):c.2383-14G>A rs965867949
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
NM_018714.3(COG1):c.2619+17A>T
NM_018714.3(COG1):c.2620-13T>C rs2145106371
NM_018714.3(COG1):c.2620-9G>C rs2061375147
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
NM_018714.3(COG1):c.2730-18T>C
NM_018714.3(COG1):c.2805+13_2805+20del
NM_018714.3(COG1):c.2805+18G>C
NM_018714.3(COG1):c.316-6C>T
NM_018714.3(COG1):c.316-9C>T
NM_018714.3(COG1):c.327A>G (p.Pro109=)
NM_018714.3(COG1):c.423C>G (p.Leu141=)
NM_018714.3(COG1):c.423C>T (p.Leu141=)
NM_018714.3(COG1):c.426C>T (p.His142=)
NM_018714.3(COG1):c.510C>T (p.Leu170=)
NM_018714.3(COG1):c.549C>T (p.Ala183=) rs1302286767
NM_018714.3(COG1):c.552C>T (p.Ser184=)
NM_018714.3(COG1):c.560+16G>A
NM_018714.3(COG1):c.560+18A>C
NM_018714.3(COG1):c.560+8G>A
NM_018714.3(COG1):c.561-11_561-9del
NM_018714.3(COG1):c.561-6T>C rs1197833925
NM_018714.3(COG1):c.573G>T (p.Leu191=)
NM_018714.3(COG1):c.742+14C>G
NM_018714.3(COG1):c.743-4T>C
NM_018714.3(COG1):c.750T>C (p.Gly250=)
NM_018714.3(COG1):c.810T>C (p.His270=)
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.913+18C>A rs2145093567
NM_018714.3(COG1):c.913+9T>G

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