ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1E

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ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_003859.3(DPM1):c.296-12T>C rs200030885 0.00143
NM_003859.3(DPM1):c.398+13T>C rs201703497 0.00140
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly) rs147804856 0.00034
NM_003859.3(DPM1):c.*248T>A rs1020154329 0.00030
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr) rs752831768 0.00022
NM_003859.3(DPM1):c.357T>C (p.Ala119=) rs371895653 0.00021
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile) rs146262101 0.00016
NM_003859.3(DPM1):c.759A>G (p.Leu253=) rs769964944 0.00014
NM_003859.3(DPM1):c.564-20A>G rs201186989 0.00013
NM_003859.3(DPM1):c.679-8T>A rs764913742 0.00013
NM_003859.3(DPM1):c.*12T>C rs758875594 0.00008
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn) rs776145598 0.00008
NM_003859.3(DPM1):c.*159A>G rs775290919 0.00007
NM_003859.3(DPM1):c.261T>A (p.Ile87=) rs774440510 0.00007
NM_003859.3(DPM1):c.684A>G (p.Pro228=) rs369538517 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_003859.3(DPM1):c.261+8A>G rs369077586 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly) rs148674319 0.00006
NM_003859.3(DPM1):c.456A>G (p.Gly152=) rs370598866 0.00005
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp) rs146935617 0.00004
NM_003859.3(DPM1):c.161+18C>T rs112688266 0.00004
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp) rs373944766 0.00004
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln) rs754001081 0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=) rs754109868 0.00004
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu) rs376257244 0.00004
NM_003859.3(DPM1):c.678+9C>T rs749718528 0.00004
NM_003859.3(DPM1):c.*191A>G rs771510447 0.00003
NM_003859.3(DPM1):c.161+17C>T rs777976660 0.00003
NM_003859.3(DPM1):c.171C>T (p.Asn57=) rs755192460 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln) rs1324570980 0.00003
NM_003859.3(DPM1):c.57G>T (p.Val19=) rs1311416348 0.00003
NM_003859.3(DPM1):c.9C>G (p.Ser3=) rs150509150 0.00003
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser) rs369939483 0.00002
NM_003859.3(DPM1):c.296-10T>C rs765027931 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_003859.3(DPM1):c.494+2T>C rs1478040715 0.00002
NM_003859.3(DPM1):c.494+8C>T rs367586095 0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile) rs938379512 0.00002
NM_003859.3(DPM1):c.726A>G (p.Gly242=) rs772092645 0.00002
NM_003859.3(DPM1):c.162-17A>G rs376823531 0.00001
NM_003859.3(DPM1):c.168C>G (p.Ile56Met) rs562769511 0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala) rs1986767219 0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile) rs750927313 0.00001
NM_003859.3(DPM1):c.219T>C (p.Asp73=) rs753295960 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003859.3(DPM1):c.339C>T (p.Tyr113=) rs749555898 0.00001
NM_003859.3(DPM1):c.35G>T (p.Arg12Met) rs559291357 0.00001
NM_003859.3(DPM1):c.373-11T>C rs750138754 0.00001
NM_003859.3(DPM1):c.49C>G (p.Leu17Val) rs761143591 0.00001
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) rs727503905 0.00001
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln) rs11553474 0.00001
NM_003859.3(DPM1):c.563+15T>C rs1285003493 0.00001
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) rs1324743951 0.00001
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg) rs747972169 0.00001
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln) rs769390268 0.00001
NM_003859.3(DPM1):c.675C>T (p.Gly225=) rs1414447653 0.00001
NM_003859.3(DPM1):c.678+4T>G rs948892336 0.00001
NM_003859.3(DPM1):c.678+8A>G rs771147863 0.00001
NM_003859.3(DPM1):c.679-12T>A rs1985048219 0.00001
NM_003859.3(DPM1):c.701G>A (p.Arg234His) rs760322056 0.00001
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg) rs1205339617 0.00001
NM_003859.3(DPM1):c.757T>G (p.Leu253Val) rs773403940 0.00001
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala) rs748394583 0.00001
NC_000020.10:g.(?_49507942)_(49576762_?)del
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NC_000020.11:g.(?_50934864)_(50958574_?)del
NC_000020.11:g.(?_50940845)_(50942146_?)del
NM_003859.3(DPM1):c.*117A>G rs920558366
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys) rs369939483
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys) rs767978019
NM_003859.3(DPM1):c.117C>T (p.Asn39=) rs1488509110
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg) rs2123155224
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
NM_003859.3(DPM1):c.123G>T (p.Pro41=) rs762396281
NM_003859.3(DPM1):c.127A>G (p.Ile43Val) rs769480044
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
NM_003859.3(DPM1):c.142G>A (p.Val48Met) rs776470942
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
NM_003859.3(DPM1):c.161+10C>T rs779869066
NM_003859.3(DPM1):c.161+16_161+21del rs2123154859
NM_003859.3(DPM1):c.161+20_161+22del
NM_003859.3(DPM1):c.162-3del rs1568774485
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys) rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe) rs1040795570
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer) rs1350257432
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe) rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.182del (p.Ile61fs)
NM_003859.3(DPM1):c.18C>A (p.Val6=)
NM_003859.3(DPM1):c.18C>G (p.Val6=) rs141104808
NM_003859.3(DPM1):c.18C>T (p.Val6=)
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly) rs201392536
NM_003859.3(DPM1):c.232T>C (p.Leu78=) rs1986765330
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val) rs1986763754
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly) rs17850343
NM_003859.3(DPM1):c.262-19C>A
NM_003859.3(DPM1):c.262-19C>T
NM_003859.3(DPM1):c.262-9T>C rs759423847
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
NM_003859.3(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.295+8G>C rs758553918
NM_003859.3(DPM1):c.296-14A>C
NM_003859.3(DPM1):c.296-5T>C rs1986258168
NM_003859.3(DPM1):c.296-9C>A rs1986258505
NM_003859.3(DPM1):c.296-9C>G rs1986258505
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg) rs755912457
NM_003859.3(DPM1):c.303A>G (p.Ala101=) rs139211110
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
NM_003859.3(DPM1):c.30T>C (p.Pro10=)
NM_003859.3(DPM1):c.326C>T (p.Ala109Val) rs1986256273
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn) rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr) rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys) rs559291357
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.371A>G (p.His124Arg) rs2123115725
NM_003859.3(DPM1):c.372+12G>A
NM_003859.3(DPM1):c.373-5T>A rs587777115
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser) rs752831768
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.398+20T>C
NM_003859.3(DPM1):c.399-13A>T
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.3(DPM1):c.414T>C (p.Gly138=) rs2123098264
NM_003859.3(DPM1):c.429C>T (p.Val143=)
NM_003859.3(DPM1):c.42G>T (p.Arg14=) rs2123155781
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) rs1225648834
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
NM_003859.3(DPM1):c.459T>C (p.Gly153=) rs1985885337
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala) rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.490_493del (p.Ile164fs) rs781115721
NM_003859.3(DPM1):c.494+16dup
NM_003859.3(DPM1):c.494+7A>G rs1441485408
NM_003859.3(DPM1):c.494+9A>C rs774832271
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.495-15T>G
NM_003859.3(DPM1):c.495-18G>C
NM_003859.3(DPM1):c.495-1G>T
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys) rs547949792
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser) rs1985671191
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
NM_003859.3(DPM1):c.52del (p.Glu18fs) rs759278634
NM_003859.3(DPM1):c.552A>C (p.Thr184=) rs1985668924
NM_003859.3(DPM1):c.564-24AT[3] rs759107587
NM_003859.3(DPM1):c.567A>G (p.Leu189=) rs897083759
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp) rs1601016907
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr) rs528582693
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
NM_003859.3(DPM1):c.617G>T (p.Gly206Val) rs760063295
NM_003859.3(DPM1):c.618C>T (p.Gly206=)
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys) rs1036628226
NM_003859.3(DPM1):c.621C>T (p.Tyr207=) rs1373039485
NM_003859.3(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr) rs1439856985
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg) rs2123061416
NM_003859.3(DPM1):c.658T>C (p.Leu220=) rs17855394
NM_003859.3(DPM1):c.669T>C (p.Thr223=) rs561078570
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn) rs2123061350
NM_003859.3(DPM1):c.678+15C>G rs2123061176
NM_003859.3(DPM1):c.678+18A>C rs2123061147
NM_003859.3(DPM1):c.678+1G>C rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.678+9C>G rs749718528
NM_003859.3(DPM1):c.679-12T>G
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_003859.3(DPM1):c.679-9_679-8dup
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala) rs1985042327
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser) rs2123056867
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly) rs1411036424
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
NM_003859.3(DPM1):c.702T>C (p.Arg234=) rs2123056796
NM_003859.3(DPM1):c.706T>C (p.Tyr236His) rs775589720
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg) rs1986960670
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003859.3(DPM1):c.768T>C (p.Leu256=)
NM_003859.3(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.3(DPM1):c.87G>C (p.Val29=)
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
NM_003859.3(DPM1):c.9C>T (p.Ser3=) rs150509150

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