ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00023
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) rs587777323 0.00007
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_006302.3(MOGS):c.882del (p.Glu295fs) rs765427546 0.00004
NM_006348.5(COG5):c.613C>T (p.Arg205Ter) rs370851836 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) rs142863074 0.00003
NM_018475.5(TMEM165):c.792+182G>A rs793888506 0.00003
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly) rs777353823 0.00003
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) rs1065764 0.00002
NM_006302.3(MOGS):c.1483C>T (p.Arg495Ter) rs746601093 0.00002
NM_006302.3(MOGS):c.646del (p.Val216fs) rs777654978 0.00002
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter) rs762675426 0.00002
NM_006348.5(COG5):c.847C>T (p.Arg283Ter) rs548774836 0.00002
NM_015949.3(GET4):c.365G>A (p.Arg122His) rs1268790820 0.00002
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) rs776531113 0.00001
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) rs1310787426 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006348.5(COG5):c.1159del (p.Arg387fs) rs1422285851 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NM_006348.5(COG5):c.1687G>T (p.Val563Phe) rs773453129 0.00001
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro) rs751860643 0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu) rs1135401817 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) rs766512058 0.00001
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys) rs387907222 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter) rs902837579 0.00001
NC_000001.10:g.(?_230203028)_(231413288_?)del
NC_000002.11:g.(?_72359356)_(74779761_?)del
NC_000002.12:g.(?_74461255)_(74465267_?)del
NC_000007.13:g.(?_106843961)_(107053097_?)del
NC_000007.13:g.(?_106897157)_(106938811_?)del
NC_000007.13:g.(?_106897157)_(107002885_?)del
NC_000007.13:g.(?_106921725)_(106924197_?)del
NC_000007.13:g.(?_106964865)_(106964986_?)del
NC_000007.13:g.(?_107002458)_(107002885_?)del
NC_000007.13:g.(?_107002458)_(107053097_?)del
NC_000007.13:g.(?_107002458)_(107204434_?)del
NC_000007.13:g.(?_107052927)_(107053097_?)del
NC_000007.13:g.(?_107167662)_(107167822_?)del
NC_000007.13:g.(?_107188536)_(107204434_?)del
NC_000007.13:g.(?_107204228)_(107204434_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del
NC_000023.10:g.(?_48762413)_(48763384_?)del
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) rs864309659
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) rs2149060093
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001282648.2(SLC35A2):c.-81_202+1del
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs) rs1564035076
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter) rs1840249855
NM_001745.4(CAMLG):c.633+4A>G
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) rs104894446
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) rs104894449
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002408.4(MGAT2):c.753dup (p.Ala252fs) rs1566504935
NM_002408.4(MGAT2):c.785A>G (p.His262Arg) rs104894447
NM_002408.4(MGAT2):c.799G>C (p.Asp267His) rs1566505013
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) rs104894448
NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter) rs1663959543
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser) rs1663960324
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter) rs1431963909
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro) rs376870425
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter) rs1665467473
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter) rs2147496735
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu) rs1042469070
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg) rs1569511572
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter) rs2147489736
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter) rs2063491273
NM_005660.3(SLC35A2):c.348del (p.Val117fs) rs1557043131
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter) rs2147489558
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile) rs587776962
NM_005660.3(SLC35A2):c.426+1G>A rs2147489491
NM_005660.3(SLC35A2):c.426+287_775del rs1557042824
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs) rs587777434
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe) rs1283637638
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)
NM_005660.3(SLC35A2):c.601del (p.Ala201fs) rs2147487247
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs) rs1057518719
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs) rs1602338615
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe) rs587777436
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer) rs2147487028
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter) rs868941656
NM_005660.3(SLC35A2):c.781del (p.Arg261fs) rs2147486684
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs) rs2063479086
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs) rs2063477918
NM_005660.3(SLC35A2):c.972del (p.Phe324fs) rs587777435
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
NM_005660.3(SLC35A2):c.991_993del (p.Val331del) rs2063477224
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His) rs1057523485
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser) rs1926621737
NM_006302.2(MOGS):c.[329G>A;65C>A]
NM_006302.3(MOGS):c.1142dup (p.Leu383fs)
NM_006302.3(MOGS):c.1204del (p.Ile402fs)
NM_006302.3(MOGS):c.1222del (p.Gln408fs)
NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter) rs886349456
NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)
NM_006302.3(MOGS):c.1457G>C (p.Arg486Thr) rs121909291
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter)
NM_006302.3(MOGS):c.1954T>C (p.Phe652Leu) rs121909292
NM_006302.3(MOGS):c.287G>A (p.Trp96Ter) rs781577192
NM_006302.3(MOGS):c.422del (p.Asp141fs)
NM_006302.3(MOGS):c.54dup (p.Ala19fs)
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)
NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
NM_006302.3(MOGS):c.881del (p.Pro294fs)
NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter) rs2116916717
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter) rs1186766555
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
NM_006348.5(COG5):c.1415dup (p.Gly474fs) rs773281248
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
NM_006348.5(COG5):c.1576-15A>G rs1562937199
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter) rs778187974
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs) rs771651520
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
NM_006348.5(COG5):c.2167del (p.Arg723fs) rs2116402799
NM_006348.5(COG5):c.220G>T (p.Glu74Ter) rs1803451815
NM_006348.5(COG5):c.2234dup (p.Ser746fs) rs2116202376
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup) rs751641438
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter) rs2116201860
NM_006348.5(COG5):c.237del (p.Val80fs) rs1330009938
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter) rs1798520770
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu) rs1800843840
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
NM_006348.5(COG5):c.487C>T (p.Gln163Ter) rs1231928102
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
NM_006348.5(COG5):c.697del (p.Gln233fs)
NM_006348.5(COG5):c.729_730dup (p.Thr244fs) rs1289836014
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
NM_006348.5(COG5):c.936del (p.Val313fs)
NM_006348.5(COG5):c.961C>T (p.Gln321Ter) rs370028534
NM_006348.5(COG5):c.96del (p.Cys33Valfs) rs1554464495
NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His) rs1554166294
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) rs1554166844
NM_007357.3(COG2):c.1900T>G (p.Trp634Gly) rs1085307117
NM_007357.3(COG2):c.260del (p.Gln87fs)
NM_007357.3(COG2):c.436dup (p.Ile146fs) rs1031719032
NM_007357.3(COG2):c.701dup (p.Tyr234Ter) rs1085307116
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter) rs2151749755
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1608del (p.Gly537fs)
NM_015386.3(COG4):c.2318T>G (p.Leu773Arg) rs387907203
NM_015386.3(COG4):c.599_600del (p.Lys200fs) rs2049726544
NM_015386.3(COG4):c.697G>T (p.Glu233Ter) rs387907202
NM_015386.3(COG4):c.6del (p.Thr3fs) rs937887233
NM_015386.3(COG4):c.73G>T (p.Gly25Ter) rs1249789100
NM_015386.3(COG4):c.883G>T (p.Glu295Ter) rs2151758219
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_018389.5(SLC35C1):c.367del (p.Val123fs) rs2085872592
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) rs1470970903
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) rs2134598310
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) rs398124345
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg) rs28937886
NM_018475.5(TMEM165):c.377G>A (p.Arg126His) rs387907221
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg) rs886037631
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_018714.3(COG1):c.1091del (p.Asn364fs)
NM_018714.3(COG1):c.1130del (p.Lys377fs) rs2145097019
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020751.3(COG6):c.1239dup (p.Phe414fs) rs1555277827
NM_020751.3(COG6):c.153+392A>G
NM_020751.3(COG6):c.1646G>T (p.Gly549Val) rs387906959
NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)
NM_020751.3(COG6):c.1A>G (p.Met1Val) rs752232501
NM_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.388C>T (p.Gln130Ter) rs1259563970
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020751.3(COG6):c.726del (p.Cys242fs) rs1593421620
NM_020751.3(COG6):c.785A>G (p.Tyr262Cys) rs756826030
NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]
NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn) rs2102081233
NM_025191.4(EDEM3):c.1369del (p.Arg457fs) rs2102081225
NM_025191.4(EDEM3):c.1382_1385del (p.Phe461fs) rs1650312698
NM_025191.4(EDEM3):c.1859del (p.Ile620fs) rs2102068802
NM_025191.4(EDEM3):c.2001dup (p.Ala668fs) rs1650036294
NM_025191.4(EDEM3):c.853+1G>T rs2102093642
NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter) rs2102089507
NM_031431.4(COG3):c.109G>C (p.Asp37His)
NM_031431.4(COG3):c.124T>C (p.Ser42Pro)
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr) rs869025583
NM_032382.5(COG8):c.1413+1G>A rs1264383808
NM_032382.5(COG8):c.1550_1556del (p.Leu517fs) rs2143335414
NM_032382.5(COG8):c.1583-1G>A rs1287837570
NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter) rs121434387
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs) rs780534334
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs) rs766244312
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_152464.3(TMEM199):c.376-1G>A rs869025587
NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro) rs869025586
NM_153603.4(COG7):c.1476-1G>T rs1555493029
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
NM_153603.4(COG7):c.169+4A>C rs1555497568
NM_153603.4(COG7):c.170-7A>G rs1555496968
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
NM_153603.4(COG7):c.1A>G (p.Met1Val) rs1051352713
NM_181581.3(DUS4L):c.-339_-338del rs1049832940
SLC35A2:c.15_91+48delinsA rs1557044030

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