ClinVar Miner

List of variants reported as likely 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: 120
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HGVS dbSNP
NC_000016.9:g.(?_5130947)_(5147740_?)del
NC_000016.9:g.(?_8904926)_(8926102_?)del
NC_000016.9:g.(?_8941558)_(8941692_?)del
NM_000303.2(PMM2):c.451_454delGAAA (p.Glu151Ilefs) rs1274794195
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
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.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.348-1G>C rs1555449604
NM_000303.3(PMM2):c.348-2A>C rs1555449603
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
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.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
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.524-2A>G rs1555449780
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886
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.58C>T (p.Pro20Ser)
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-15479C>T rs1258107584
NM_000303.3(PMM2):c.66+1G>T rs937726878
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
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.95_96delinsGC (p.Leu32Arg) rs398123312
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752
NM_002435.3(MPI):c.145-1G>A rs1057516573
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.345+1G>A rs1555478333
NM_002435.3(MPI):c.487+2del rs1057516550
NM_002435.3(MPI):c.488-1G>A rs759579169
NM_002435.3(MPI):c.488-1G>C rs759579169
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.629del (p.Val210fs) rs1555478606
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.89_113del (p.Leu30fs) rs1555478118
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_005216.4(DDOST):c.696G>C (p.Gln232His) rs867045420
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) rs1028791709
NM_005787.6(ALG3):c.296+4A>G rs1560164682
NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs) rs794729223
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) rs1553156894
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273
NM_013339.4(ALG6):c.257+2dup rs745426479
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955
NM_013339.4(ALG6):c.429+1G>T rs781097055
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.495-2A>G rs1227131990
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.902+1G>A
NM_014908.3(DOLK):c.731dup (p.Phe245fs)
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_019109.4(ALG1):c.652C>T (p.Pro218Ser) rs528261173
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_019109.4(ALG1):c.826C>T (p.Arg276Trp) rs151173406
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_019109.4(ALG1):c.863-2A>G
NM_019109.4(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.4(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro)
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149

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