ClinVar Miner

List of variants reported as pathogenic for disorder of multiple glycosylation

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 525
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00023
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00010
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(VMA12):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) rs104894588 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_006348.5(COG5):c.613C>T (p.Arg205Ter) rs370851836 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_032357.4(VMA22):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) rs1212623980 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr) rs121908626 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) rs1065764 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_005476.7(GNE):c.1130del (p.Ile377fs) rs982936794 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 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_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) rs1324743951 0.00001
NM_004341.5(CAD):c.2995G>A (p.Val999Met) rs1475014505 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) rs104894589 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu) rs121908625 0.00001
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr) rs752286512 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His) rs1191857860 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 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_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) rs766512058 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) rs1557794919 0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NC_000001.10:g.(230814799_230819319)_(230820983_230822680)del
NC_000001.10:g.(?_155112418)_(155112826_?)del
NC_000001.10:g.(?_230203028)_(231413288_?)del
NC_000004.11:g.(?_56225493)_(56225675_?)del
NC_000006.11:g.(?_83878953)_(83900987_?)del
NC_000006.11:g.(?_83881756)_(84086643_?)del
NC_000006.11:g.(?_83888372)_(83889706_?)del
NC_000007.13:g.(?_106843961)_(106964986_?)del
NC_000007.13:g.(?_106843961)_(107053097_?)del
NC_000007.13:g.(?_106888821)_(106938811_?)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.(?_107167662)_(107303900_?)del
NC_000007.13:g.(?_107188536)_(107204434_?)del
NC_000007.13:g.(?_107204228)_(107204434_?)del
NC_000009.11:g.(?_130216807)_(130953136_?)del
NC_000009.11:g.(?_36227225)_(36276941_?)del
NC_000009.11:g.(?_36227235)_(36227465_?)del
NC_000009.11:g.(?_36245958)_(36249414_?)del
NC_000009.11:g.(?_36246008)_(36276941_?)del
NC_000009.11:g.(?_36246018)_(36246489_?)del
NC_000009.12:g.(?_36276884)_(36277052_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del
NC_000016.9:g.(?_23417377)_(23417603_?)del
NC_000017.10:g.(?_71195984)_(71199305_?)del
NC_000020.10:g.(?_17603729)_(18541384_?)del
NC_000020.10:g.(?_18491480)_(18496400_?)del
NC_000020.10:g.(?_18491480)_(18505684_?)del
NC_000020.10:g.(?_18491480)_(18535837_?)del
NC_000020.10:g.(?_18522920)_(18523066_?)del
NC_000020.10:g.(?_49507942)_(49576762_?)del
NC_000020.10:g.(?_49520406)_(49571842_?)del
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.(?_50934864)_(50958574_?)del
NC_000020.11:g.18512225_18512228del
NC_000023.10:g.(?_48762413)_(48763384_?)del
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
NM_001128227.3(GNE):c.51+10408_52-10008del
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer) rs2133126724
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.7del (p.Thr3fs) rs1563966097
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
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_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer) rs1350257432
NM_003859.3(DPM1):c.182del (p.Ile61fs)
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.3(DPM1):c.373-5T>A rs587777115
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.3(DPM1):c.490_493del (p.Ile164fs) rs781115721
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
NM_003859.3(DPM1):c.52del (p.Glu18fs) rs759278634
NM_003859.3(DPM1):c.564-1G>T
NM_003859.3(DPM1):c.566T>A (p.Leu189Ter)
NM_003859.3(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.147T>A (p.Tyr49Ter)
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp) rs1185338798
NM_003863.4(DPM2):c.29del (p.Gly10fs)
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.4-1G>C rs797044467
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys) rs397514503
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.2953_2954del (p.Met985fs)
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.933_934del (p.Phe312fs)
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) rs104894587
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter) rs983424324
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs) rs1829026390
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter) rs1276168825
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer) rs2133042191
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
NM_005476.7(GNE):c.1220dup (p.Ser408fs) rs2133041569
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1361_1362del (p.Val454fs)
NM_005476.7(GNE):c.1379C>T (p.Ala460Val) rs121908631
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter) rs1554658955
NM_005476.7(GNE):c.1477C>T (p.Gln493Ter)
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1510dup (p.Leu504fs) rs1828669338
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs) rs1057516657
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer) rs1828665576
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1690del (p.Ala564fs) rs2133007032
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.174_177dup (p.Met60fs) rs2133114222
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter) rs2133006228
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1816+5G>A rs2133005844
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
NM_005476.7(GNE):c.1933+1G>C
NM_005476.7(GNE):c.1973del (p.His658fs)
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs) rs2132993345
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2135del (p.Met712fs)
NM_005476.7(GNE):c.221_222del (p.Thr74fs) rs2133113896
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
NM_005476.7(GNE):c.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.454_616+70delinsTAG rs2133111012
NM_005476.7(GNE):c.463dup (p.His155fs)
NM_005476.7(GNE):c.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.511A>G (p.Met171Val) rs121908634
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs886042120
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_005476.7(GNE):c.712del (p.Asp238fs)
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer) rs2133078032
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.787C>T (p.Arg263Ter) rs200643106
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.7(GNE):c.798del (p.Lys267fs)
NM_005476.7(GNE):c.79C>T (p.Pro27Ser) rs1554664064
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val) rs121908633
NM_005476.7(GNE):c.909T>A (p.Cys303Ter) rs121908628
NM_005476.7(GNE):c.952_953del (p.Leu318fs) rs2133068002
NM_005476.7(GNE):c.976G>T (p.Glu326Ter)
NM_005476.7(GNE):c.985G>T (p.Glu329Ter)
NM_005476.7(GNE):c.997dup (p.His333fs) rs2133049724
NM_005476.7(GNE):c.[2086G>A];[385C>T]
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter) rs2147496735
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val) rs1042469070
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.92-12C>A
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_006348.5(COG5):c.-85_-84delGG rs1049832940
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.1252del (p.Asp418fs)
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.1600C>T (p.Gln534Ter)
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.257T>A (p.Leu86Ter)
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.562del (p.Leu188fs)
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_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
NM_006363.6(SEC23B):c.1326_1327del (p.Gly443fs)
NM_006363.6(SEC23B):c.1389_1390del (p.Phe463fs)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
NM_006363.6(SEC23B):c.1515_1536dup (p.Arg513fs)
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.1733T>C (p.Leu578Pro)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
NM_006363.6(SEC23B):c.1887del (p.His631fs) rs1216879587
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
NM_006363.6(SEC23B):c.279+2T>C
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
NM_006363.6(SEC23B):c.394_397del (p.Leu132fs)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006363.6(SEC23B):c.689+1G>C
NM_006363.6(SEC23B):c.689+1G>T
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
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.523delinsCAGGCCCATACAGGTGCAATGGTTTTCTGGAGCACCTGTATGCTC (p.Thr175fs)
NM_007357.3(COG2):c.701dup (p.Tyr234Ter) rs1085307116
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
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_015599.3(PGM3):c.-2-185C>T rs565900346
NM_015599.3(PGM3):c.-2-195C>G
NM_015599.3(PGM3):c.-2-201dup
NM_015599.3(PGM3):c.-2-218G>T
NM_015599.3(PGM3):c.-2-238del rs2128509412
NM_015599.3(PGM3):c.-2-242_-2-241del
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) rs587777416
NM_015599.3(PGM3):c.1104T>G (p.Tyr368Ter)
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs)
NM_015599.3(PGM3):c.1165_1166del (p.Gln389fs)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.1198_1202dup (p.Ala402fs)
NM_015599.3(PGM3):c.1255_1277del (p.Asp418_Ala419insTer)
NM_015599.3(PGM3):c.1330_1333dup (p.Thr445fs) rs777118863
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.1359dup (p.Val454fs)
NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)
NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)
NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)
NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln) rs587777413
NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) rs267608261
NM_015599.3(PGM3):c.152_153del (p.Lys51fs)
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.162dup (p.Ser55fs)
NM_015599.3(PGM3):c.226del (p.Val76fs)
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
NM_015599.3(PGM3):c.322_323insGATTG (p.Asp108fs)
NM_015599.3(PGM3):c.369dup (p.Val124fs) rs1788795866
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015599.3(PGM3):c.379del (p.Arg127fs)
NM_015599.3(PGM3):c.398_413del (p.Ser133fs) rs1404084330
NM_015599.3(PGM3):c.414del (p.Gln138fs)
NM_015599.3(PGM3):c.421dup (p.Ile141fs) rs2128504331
NM_015599.3(PGM3):c.43_46dup (p.Pro16fs)
NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer)
NM_015599.3(PGM3):c.620C>G (p.Ser207Ter)
NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015599.3(PGM3):c.767_777del (p.Ser256fs) rs2128497316
NM_015599.3(PGM3):c.784C>T (p.Gln262Ter) rs1293351659
NM_015599.3(PGM3):c.816C>A (p.Cys272Ter)
NM_015599.3(PGM3):c.85C>T (p.Arg29Ter)
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) rs587777415
NM_015599.3(PGM3):c.908del (p.Thr303fs)
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_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.1401dup (p.Glu468Ter)
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
NM_018714.3(COG1):c.2665_2666insCG (p.Arg889fs)
NM_018714.3(COG1):c.2665del (p.Arg889fs)
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_024592.5(SRD5A3):c.279C>A (p.Cys93Ter) rs1482361634
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) rs267607094
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) rs267607092
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr) rs869025583
NM_032357.4(VMA22):c.227del (p.Glu76fs)
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(VMA12):c.376-1G>A rs869025587
NM_152464.3(VMA12):c.40G>C (p.Ala14Pro) rs869025586
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter)
NM_153603.4(COG7):c.1255dup (p.Cys419fs)
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)
NM_153603.4(COG7):c.1375del (p.Gln459fs)
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.1702C>T (p.Arg568Ter)
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)
NM_153603.4(COG7):c.1A>G (p.Met1Val) rs1051352713
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153603.4(COG7):c.343_344insTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGCTCCCTCTCCCGGCTCCCGCTCCCGCTCCCGGGGCCCTCTCCCGCGCGCGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAATTGACCAAGTGA (p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer)
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)
NM_153603.4(COG7):c.79G>T (p.Glu27Ter)
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) rs1444066075
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) rs2102491600
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) rs749000879
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) rs121908155
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.5del (p.Thr2fs)
SLC35A2:c.15_91+48delinsA rs1557044030
Single allele

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