ClinVar Miner

List of variants studied for COG1 congenital disorder of glycosylation

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP
COG1, 1-BP INS, 2659C
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NM_018714.2(COG1):c.-27A>G rs3764359
NM_018714.3(COG1):c.*41C>T
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829
NM_018714.3(COG1):c.105C>G (p.Arg35=) rs1599320719
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_018714.3(COG1):c.1070+9C>A
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
NM_018714.3(COG1):c.1116C>T (p.Tyr372=)
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
NM_018714.3(COG1):c.1152C>T (p.Asp384=)
NM_018714.3(COG1):c.1157T>C (p.Met386Thr) rs200459268
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827
NM_018714.3(COG1):c.1236G>A (p.Leu412=)
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln)
NM_018714.3(COG1):c.1282-3T>C rs188853520
NM_018714.3(COG1):c.1282-48T>C
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) rs886053369
NM_018714.3(COG1):c.1343C>T (p.Ala448Val)
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser)
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys)
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
NM_018714.3(COG1):c.1710G>A (p.Leu570=) rs139407216
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)
NM_018714.3(COG1):c.200G>T (p.Gly67Val) rs886053367
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) rs200144944
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) rs1599328658
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802
NM_018714.3(COG1):c.2383-17T>C rs3829571
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr)
NM_018714.3(COG1):c.2511-5C>G rs201123101
NM_018714.3(COG1):c.2514T>C (p.Ile838=)
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
NM_018714.3(COG1):c.2605G>A (p.Val869Met) rs886053370
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
NM_018714.3(COG1):c.2619+11T>A rs144115463
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg)
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684
NM_018714.3(COG1):c.26C>T (p.Ala9Val) rs759369353
NM_018714.3(COG1):c.273C>G (p.Arg91=)
NM_018714.3(COG1):c.2752A>G (p.Met918Val) rs201733537
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) rs774479733
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.2806-13C>T rs141573449
NM_018714.3(COG1):c.2808T>C (p.Val936=)
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
NM_018714.3(COG1):c.2826C>T (p.Ser942=) rs767159115
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) rs757086937
NM_018714.3(COG1):c.303G>A (p.Pro101=) rs886053368
NM_018714.3(COG1):c.315+10C>G
NM_018714.3(COG1):c.315+8C>T rs748732950
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706
NM_018714.3(COG1):c.34C>T (p.Arg12Trp) rs201263432
NM_018714.3(COG1):c.384G>A (p.Pro128=)
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.3(COG1):c.402G>A (p.Ser134=) rs765699770
NM_018714.3(COG1):c.427G>A (p.Ala143Thr)
NM_018714.3(COG1):c.494G>A (p.Arg165Gln)
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655
NM_018714.3(COG1):c.542C>T (p.Ala181Val) rs534708439
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800
NM_018714.3(COG1):c.546C>T (p.Ala182=)
NM_018714.3(COG1):c.560+15C>T rs201364732
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529
NM_018714.3(COG1):c.613G>A (p.Asp205Asn) rs141474045
NM_018714.3(COG1):c.671G>A (p.Arg224His)
NM_018714.3(COG1):c.705G>A (p.Lys235=)
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
NM_018714.3(COG1):c.743-10C>G rs185592690
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) rs1032371996
NM_018714.3(COG1):c.87G>C (p.Glu29Asp) rs375609831
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.967C>A (p.His323Asn) rs369505856
NM_018714.3(COG1):c.96G>A (p.Gly32=) rs143964203
NM_018714.3(COG1):c.985G>A (p.Val329Ile)
NM_018714.3(COG1):c.988G>A (p.Glu330Lys) rs779924491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.