ClinVar Miner

List of variants reported as likely benign for COG5-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.538+20T>A rs537674225 0.00209
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_006348.5(COG5):c.538+21A>T rs568603073 0.00197
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_006348.5(COG5):c.927T>C (p.His309=) rs140684568 0.00083
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545 0.00036
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_006348.5(COG5):c.2485C>T (p.Gln829Ter) rs549788738 0.00027
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
NM_006348.5(COG5):c.1027-12T>G rs752334970 0.00016
NM_006348.5(COG5):c.2295+8A>G rs377392848 0.00016
NM_006348.5(COG5):c.454T>C (p.Leu152=) rs200107630 0.00016
NM_006348.5(COG5):c.1686+7A>G rs373280339 0.00013
NM_006348.5(COG5):c.2232G>A (p.Pro744=) rs374402677 0.00011
NM_006348.5(COG5):c.267A>G (p.Gln89=) rs763508355 0.00011
NM_006348.5(COG5):c.2088A>C (p.Ala696=) rs372319280 0.00010
NM_006348.5(COG5):c.1416G>A (p.Pro472=) rs149574256 0.00009
NM_006348.5(COG5):c.2215T>C (p.Leu739=) rs374796275 0.00009
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 0.00008
NM_006348.5(COG5):c.1313+15T>C rs201626650 0.00007
NM_006348.5(COG5):c.2168+9G>A rs746107488 0.00006
NM_006348.5(COG5):c.2169-16T>A rs776440647 0.00006
NM_006348.5(COG5):c.2169-6G>A rs200895224 0.00006
NM_006348.5(COG5):c.348-16C>T rs780403880 0.00006
NM_006348.5(COG5):c.1038G>A (p.Pro346=) rs148802109 0.00005
NM_006348.5(COG5):c.-4C>T rs1371412798 0.00004
NM_006348.5(COG5):c.102T>C (p.Tyr34=) rs777099343 0.00004
NM_006348.5(COG5):c.141T>C (p.Tyr47=) rs766371051 0.00004
NM_006348.5(COG5):c.684C>T (p.Val228=) rs773862978 0.00004
NM_006348.5(COG5):c.159T>C (p.His53=) rs368148545 0.00003
NM_006348.5(COG5):c.1657T>C (p.Leu553=) rs1016865948 0.00003
NM_006348.5(COG5):c.1750-11T>C rs368740481 0.00003
NM_006348.5(COG5):c.1956T>C (p.Phe652=) rs1358993369 0.00003
NM_006348.5(COG5):c.2433A>C (p.Ala811=) rs775853693 0.00003
NM_006348.5(COG5):c.390C>T (p.Ala130=) rs575783486 0.00003
NM_006348.5(COG5):c.538+8T>G rs1018824602 0.00003
NM_006348.5(COG5):c.1027-5C>T rs767208462 0.00002
NM_006348.5(COG5):c.1845C>T (p.Asp615=) rs746373863 0.00002
NM_006348.5(COG5):c.216C>T (p.Asp72=) rs143972347 0.00002
NM_006348.5(COG5):c.2295+18G>C rs748577968 0.00002
NM_006348.5(COG5):c.399A>T (p.Ala133=) rs375237727 0.00002
NM_006348.5(COG5):c.418-6del rs766142910 0.00002
NM_006348.5(COG5):c.639G>A (p.Lys213=) rs925413684 0.00002
NM_006348.5(COG5):c.836-4C>A rs1001144225 0.00002
NM_006348.5(COG5):c.-1C>T rs746011817 0.00001
NM_006348.5(COG5):c.1027-10T>C rs1449874316 0.00001
NM_006348.5(COG5):c.1071T>C (p.Thr357=) rs773266850 0.00001
NM_006348.5(COG5):c.1113G>A (p.Ser371=) rs768870825 0.00001
NM_006348.5(COG5):c.1153T>C (p.Leu385=) rs746295764 0.00001
NM_006348.5(COG5):c.1191A>G (p.Gln397=) rs758096164 0.00001
NM_006348.5(COG5):c.1389C>T (p.Phe463=) rs748974685 0.00001
NM_006348.5(COG5):c.1452T>C (p.Asp484=) rs1228777798 0.00001
NM_006348.5(COG5):c.1569G>A (p.Glu523=) rs1375308939 0.00001
NM_006348.5(COG5):c.1575+17A>G rs775465748 0.00001
NM_006348.5(COG5):c.1749+7G>A rs906116599 0.00001
NM_006348.5(COG5):c.210G>A (p.Gln70=) rs779941468 0.00001
NM_006348.5(COG5):c.211T>C (p.Leu71=) rs202088548 0.00001
NM_006348.5(COG5):c.2173C>T (p.Leu725=) rs547247532 0.00001
NM_006348.5(COG5):c.2295+13G>A rs1026401988 0.00001
NM_006348.5(COG5):c.2296-15G>C rs751658237 0.00001
NM_006348.5(COG5):c.234+14T>C rs553558599 0.00001
NM_006348.5(COG5):c.235-19A>G rs948843542 0.00001
NM_006348.5(COG5):c.347+19T>C rs754323784 0.00001
NM_006348.5(COG5):c.348-13T>A rs1416698251 0.00001
NM_006348.5(COG5):c.417+12C>A rs757628356 0.00001
NM_006348.5(COG5):c.486G>A (p.Leu162=) rs759656787 0.00001
NM_006348.5(COG5):c.492G>A (p.Gly164=) rs1302971089 0.00001
NM_006348.5(COG5):c.495A>G (p.Gly165=) rs1282017982 0.00001
NM_006348.5(COG5):c.538+10T>G rs769195866 0.00001
NM_006348.5(COG5):c.60G>A (p.Ala20=) rs374761349 0.00001
NM_006348.5(COG5):c.670-16C>T rs1189863857 0.00001
NM_006348.5(COG5):c.670-20C>G rs761111529 0.00001
NM_006348.5(COG5):c.836-9C>T rs757452204 0.00001
NM_006348.5(COG5):c.94+10C>G rs1243460444 0.00001
NM_006348.5(COG5):c.94+12G>T rs781367888 0.00001
NM_006348.5(COG5):c.949-17C>T rs573722041 0.00001
NM_006348.5(COG5):c.951A>C (p.Val317=) rs1365617209 0.00001
NM_006348.5(COG5):c.963A>G (p.Gln321=) rs375846157 0.00001
NC_000007.14:g.107563921G>A rs201256361
NM_006348.3(COG5):c.57T>C (p.Arg19=)
NM_006348.3(COG5):c.66T>C (p.Ala22=)
NM_006348.5(COG5):c.-13G>T rs915925086
NM_006348.5(COG5):c.1014A>G (p.Glu338=)
NM_006348.5(COG5):c.1026+12G>A rs1474242413
NM_006348.5(COG5):c.1026+17A>G
NM_006348.5(COG5):c.1027-11G>A
NM_006348.5(COG5):c.1027-12T>C
NM_006348.5(COG5):c.1027-17T>C
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
NM_006348.5(COG5):c.1108+10C>G
NM_006348.5(COG5):c.1108+11T>C
NM_006348.5(COG5):c.1108+13C>T rs772490075
NM_006348.5(COG5):c.1109-18T>C
NM_006348.5(COG5):c.1109-4G>A
NM_006348.5(COG5):c.1170T>C (p.Asn390=) rs1414561536
NM_006348.5(COG5):c.1224T>C (p.Asn408=)
NM_006348.5(COG5):c.1227A>G (p.Ala409=)
NM_006348.5(COG5):c.1239A>G (p.Thr413=)
NM_006348.5(COG5):c.1239A>T (p.Thr413=)
NM_006348.5(COG5):c.1281A>G (p.Gln427=)
NM_006348.5(COG5):c.1284T>C (p.Asp428=)
NM_006348.5(COG5):c.12C>T (p.Gly4=) rs1222798933
NM_006348.5(COG5):c.1302G>A (p.Lys434=) rs200021706
NM_006348.5(COG5):c.1305A>G (p.Pro435=) rs929845700
NM_006348.5(COG5):c.1313+14A>G
NM_006348.5(COG5):c.1314-4A>G rs2116814535
NM_006348.5(COG5):c.1314-6C>A
NM_006348.5(COG5):c.1326T>A (p.Ala442=)
NM_006348.5(COG5):c.1341A>G (p.Leu447=)
NM_006348.5(COG5):c.1344A>G (p.Gln448=) rs777072585
NM_006348.5(COG5):c.1350T>C (p.Tyr450=) rs1805375974
NM_006348.5(COG5):c.1353G>A (p.Glu451=)
NM_006348.5(COG5):c.1365A>G (p.Leu455=)
NM_006348.5(COG5):c.1476-14T>G
NM_006348.5(COG5):c.1476-19C>T rs562431916
NM_006348.5(COG5):c.1476-4C>T
NM_006348.5(COG5):c.1482A>G (p.Leu494=)
NM_006348.5(COG5):c.1485T>C (p.Asn495=)
NM_006348.5(COG5):c.150A>G (p.Gln50=)
NM_006348.5(COG5):c.1554C>T (p.Tyr518=)
NM_006348.5(COG5):c.1566A>G (p.Ser522=)
NM_006348.5(COG5):c.1575+13_1575+16del
NM_006348.5(COG5):c.1581C>T (p.Ser527=)
NM_006348.5(COG5):c.15C>T (p.Gly5=) rs202123650
NM_006348.5(COG5):c.1602G>A (p.Gln534=) rs759544719
NM_006348.5(COG5):c.165T>C (p.Ala55=) rs2129179500
NM_006348.5(COG5):c.1686+10_1686+14del
NM_006348.5(COG5):c.1686+12A>G rs753411527
NM_006348.5(COG5):c.1686+13T>C rs2116623196
NM_006348.5(COG5):c.1686+17G>T
NM_006348.5(COG5):c.1686+20T>G
NM_006348.5(COG5):c.1687-7G>A rs1265604878
NM_006348.5(COG5):c.1719A>G (p.Ala573=) rs1802913835
NM_006348.5(COG5):c.1746A>G (p.Leu582=)
NM_006348.5(COG5):c.1749+7G>T
NM_006348.5(COG5):c.1750-13T>A
NM_006348.5(COG5):c.1750-19del
NM_006348.5(COG5):c.1750-20T>G
NM_006348.5(COG5):c.1773T>C (p.Asn591=) rs1261977502
NM_006348.5(COG5):c.1776T>A (p.Ala592=)
NM_006348.5(COG5):c.1779G>T (p.Val593=) rs2116550198
NM_006348.5(COG5):c.180A>G (p.Gln60=) rs1803456564
NM_006348.5(COG5):c.1839A>G (p.Gln613=)
NM_006348.5(COG5):c.1854-16G>A
NM_006348.5(COG5):c.1869A>G (p.Ser623=)
NM_006348.5(COG5):c.1869A>T (p.Ser623=) rs200289261
NM_006348.5(COG5):c.1896G>A (p.Leu632=)
NM_006348.5(COG5):c.18C>T (p.Gly6=) rs776167636
NM_006348.5(COG5):c.1911A>G (p.Leu637=)
NM_006348.5(COG5):c.1914A>G (p.Gln638=)
NM_006348.5(COG5):c.192T>C (p.Leu64=)
NM_006348.5(COG5):c.2092-15A>G
NM_006348.5(COG5):c.2092-17A>G
NM_006348.5(COG5):c.2098T>C (p.Leu700=) rs757640217
NM_006348.5(COG5):c.2112A>C (p.Pro704=)
NM_006348.5(COG5):c.2112A>G (p.Pro704=)
NM_006348.5(COG5):c.2115C>T (p.Phe705=)
NM_006348.5(COG5):c.2151G>C (p.Arg717=)
NM_006348.5(COG5):c.2168+8C>A
NM_006348.5(COG5):c.2169-17_2169-16del
NM_006348.5(COG5):c.2175G>A (p.Leu725=)
NM_006348.5(COG5):c.2196T>C (p.His732=)
NM_006348.5(COG5):c.2202C>T (p.Ala734=)
NM_006348.5(COG5):c.2214A>T (p.Ala738=)
NM_006348.5(COG5):c.2241C>T (p.Ile747=)
NM_006348.5(COG5):c.2244T>C (p.Ile748=)
NM_006348.5(COG5):c.2259C>T (p.Phe753=)
NM_006348.5(COG5):c.2274T>G (p.Ala758=)
NM_006348.5(COG5):c.2280G>C (p.Leu760=)
NM_006348.5(COG5):c.2283A>G (p.Lys761=)
NM_006348.5(COG5):c.2295+20C>A
NM_006348.5(COG5):c.2296-17G>A
NM_006348.5(COG5):c.2296-18T>C
NM_006348.5(COG5):c.2296-4G>T
NM_006348.5(COG5):c.2296-7C>T
NM_006348.5(COG5):c.234+18G>C rs2129179413
NM_006348.5(COG5):c.234+9G>T
NM_006348.5(COG5):c.2346A>T (p.Pro782=) rs2116193767
NM_006348.5(COG5):c.235-15A>G
NM_006348.5(COG5):c.235-20C>A
NM_006348.5(COG5):c.235-20_235-18del
NM_006348.5(COG5):c.235-9G>T
NM_006348.5(COG5):c.2361G>A (p.Arg787=)
NM_006348.5(COG5):c.2364C>T (p.Leu788=) rs2116193413
NM_006348.5(COG5):c.2375+12T>C
NM_006348.5(COG5):c.2375+15T>C
NM_006348.5(COG5):c.2375+7C>T
NM_006348.5(COG5):c.2376-20_2376-17dup
NM_006348.5(COG5):c.2412T>C (p.Ser804=)
NM_006348.5(COG5):c.2433A>T (p.Ala811=) rs775853693
NM_006348.5(COG5):c.2458C>T (p.Leu820=)
NM_006348.5(COG5):c.2481T>A (p.Ala827=)
NM_006348.5(COG5):c.2481T>C (p.Ala827=) rs563267149
NM_006348.5(COG5):c.24C>A (p.Val8=)
NM_006348.5(COG5):c.24C>G (p.Val8=)
NM_006348.5(COG5):c.24C>T (p.Val8=)
NM_006348.5(COG5):c.270A>G (p.Ala90=)
NM_006348.5(COG5):c.285G>A (p.Ser95=) rs746581392
NM_006348.5(COG5):c.292+10T>C
NM_006348.5(COG5):c.293-11T>C
NM_006348.5(COG5):c.293-12_293-11del
NM_006348.5(COG5):c.30A>C (p.Val10=)
NM_006348.5(COG5):c.30A>G (p.Val10=)
NM_006348.5(COG5):c.315G>A (p.Thr105=)
NM_006348.5(COG5):c.347+8T>A rs1802611356
NM_006348.5(COG5):c.348-19dup
NM_006348.5(COG5):c.348-9_348-8del
NM_006348.5(COG5):c.372A>G (p.Pro124=)
NM_006348.5(COG5):c.387T>C (p.Val129=)
NM_006348.5(COG5):c.396T>C (p.Thr132=)
NM_006348.5(COG5):c.39C>T (p.Leu13=)
NM_006348.5(COG5):c.411A>G (p.Arg137=) rs747083048
NM_006348.5(COG5):c.417+11A>T
NM_006348.5(COG5):c.417+15T>C
NM_006348.5(COG5):c.417+8C>T
NM_006348.5(COG5):c.418-17T>C
NM_006348.5(COG5):c.418-4A>G
NM_006348.5(COG5):c.42A>T (p.Gly14=)
NM_006348.5(COG5):c.513A>G (p.Lys171=) rs1178585946
NM_006348.5(COG5):c.519T>C (p.Ala173=)
NM_006348.5(COG5):c.51C>T (p.Gly17=)
NM_006348.5(COG5):c.534A>G (p.Glu178=) rs765689232
NM_006348.5(COG5):c.539-18T>C
NM_006348.5(COG5):c.585A>G (p.Glu195=)
NM_006348.5(COG5):c.592C>T (p.Leu198=)
NM_006348.5(COG5):c.594A>C (p.Leu198=)
NM_006348.5(COG5):c.612C>T (p.Ala204=) rs1792383808
NM_006348.5(COG5):c.660G>A (p.Leu220=)
NM_006348.5(COG5):c.666T>C (p.Thr222=)
NM_006348.5(COG5):c.669+9A>C rs774414370
NM_006348.5(COG5):c.669+9A>T rs774414370
NM_006348.5(COG5):c.670-19C>T
NM_006348.5(COG5):c.670-25CCACC[4] rs1814298466
NM_006348.5(COG5):c.670-9T>G rs565990382
NM_006348.5(COG5):c.672T>C (p.Asn224=) rs2129050171
NM_006348.5(COG5):c.747G>T (p.Val249=)
NM_006348.5(COG5):c.762T>A (p.Ala254=)
NM_006348.5(COG5):c.780C>A (p.Ile260=)
NM_006348.5(COG5):c.780C>T (p.Ile260=) rs764388205
NM_006348.5(COG5):c.835+12G>A
NM_006348.5(COG5):c.835+8T>C rs2129050082
NM_006348.5(COG5):c.837G>C (p.Gly279=)
NM_006348.5(COG5):c.846A>G (p.Gly282=)
NM_006348.5(COG5):c.852T>C (p.Ser284=) rs2129046289
NM_006348.5(COG5):c.906T>C (p.Asn302=)
NM_006348.5(COG5):c.924T>C (p.Asp308=)
NM_006348.5(COG5):c.94+8G>A
NM_006348.5(COG5):c.948+12A>T rs763696416
NM_006348.5(COG5):c.95-12T>G
NM_006348.5(COG5):c.95-17T>A
NM_006348.5(COG5):c.95-5T>A
NM_006348.5(COG5):c.981G>A (p.Lys327=)
NM_006348.5(COG5):c.99T>C (p.Cys33=)
NM_181581.3(DUS4L):c.-342C>T rs893438249
NM_181581.3(DUS4L):c.-348C>T

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