ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP
ALG9, GLU359LYS
DPM1, 13-BP DEL
MPDU1, 1-BP DEL, 511C
MPI, 1-BP INS, 166C
NC_000001.10:g.(?_63862174)_(63862278_?)del
NC_000016.9:g.(?_8873316)_(8941702_?)del
NC_000016.9:g.(?_8891730)_(8906973_?)del
NC_000016.9:g.(?_8898599)_(8906983_?)del
NC_000020.10:g.(?_49551401)_(49575111_?)del
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NM_000303.3(PMM2):c.-167G>T
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.256-1G>C
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu) rs1057517110
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
NM_000303.3(PMM2):c.55del (p.Ala19fs)
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.640-15479C>T rs1258107584
NM_000303.3(PMM2):c.640-9T>G rs370160676
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.653A>T (p.His218Leu) rs80338705
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu) rs104894531
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) rs387907183
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) rs397514587
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001278503.2(STT3A):c.1877T>C (p.Val626Ala) rs587777216
NM_001382.4(DPAGT1):c.161+5G>A rs397515322
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn) rs397514586
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) rs397515327
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro) rs397515329
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) rs863225088
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
NM_003859.2(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.2(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.2(DPM1):c.373-5T>A rs587777115
NM_003859.2(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_003859.2(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.2(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003863.3(DPM2):c.4-1G>C rs797044467
NM_003863.3(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.5365C>T (p.Arg1789Ter) rs62130681
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004341.5:c.6071G>A
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) rs104894589
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) rs104894588
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) rs104894587
NM_005216.4(DDOST):c.1265_1286del (p.Ile422fs) rs587776874
NM_005216.4(DDOST):c.650G>A (p.Gly217Asp) rs387906831
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) rs1560162116
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) rs1560161567
NM_005787.6(ALG3):c.163_196+3del rs1560166870
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) rs119103237
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) rs370434427
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp) rs28940588
NM_005787.6(ALG3):c.470T>A (p.Met157Lys) rs119103238
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236
NM_006280.3(SSR4):c.187-301_352-15del rs1557072752
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.418-1G>A rs1057518736
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.680+2T>G
NM_013339.4(ALG6):c.894_896AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443
NM_013339.4(ALG6):c.999dup (p.Leu334fs)
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_019109.4(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.4(ALG1):c.1063del (p.Leu355fs)
NM_019109.4(ALG1):c.1129A>G (p.Met377Val) rs387906925
NM_019109.4(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.4(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074
NM_019109.4(ALG1):c.304C>T (p.Gln102Ter) rs780107088
NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.4(ALG1):c.450C>G (p.Ser150Arg) rs121908340
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_019109.4(ALG1):c.826C>T (p.Arg276Trp) rs151173406
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.673+4A>G rs1470636347
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.96-2A>G rs1555073109
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
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.57G>A (p.Trp19Ter) rs398124401
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023
NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] rs786205134
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn) rs730880304
NM_052859.4(RFT1):c.1222A>G (p.Met408Val) rs796053522
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) rs118203913
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) rs772820136
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) rs772820136
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys) rs796053521
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.99dup (p.Asn34fs)
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
NM_178862.3(STT3B):c.1539+20G>T rs587777217
PMM2, 28-KB DEL

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