ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Baylor Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp) rs142385356 0.00184
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00006
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) rs1393282696 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly) rs766042717 0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.178+1G>A rs935962174 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser) rs780581250 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.429+1G>T rs781097055 0.00001
NM_013339.4(ALG6):c.680+1G>A rs1253289234 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) rs893706862 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.179-25A>G
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) rs2060637616
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
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.713G>C (p.Arg238Pro) rs151319324
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
NM_001004127.3(ALG11):c.1A>G (p.Met1Val) rs921941078
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) rs750430228
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) rs373046727
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu) rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
NM_002435.3(MPI):c.319del (p.Leu107fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
NM_002435.3(MPI):c.432del (p.Phe145fs)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002435.3(MPI):c.487+1G>A
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+2T>C
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_002435.3(MPI):c.973del (p.Leu325fs)
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser) rs1985671191
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) rs1388629959
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1058+1G>A
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
NM_013339.4(ALG6):c.1113del (p.Val372fs)
NM_013339.4(ALG6):c.1128-1G>A rs1644631015
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
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.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer) rs756566938
NM_013339.4(ALG6):c.168-1G>A
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
NM_013339.4(ALG6):c.347-2A>G
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.493del (p.Gln165fs)
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
NM_013339.4(ALG6):c.663del (p.Gly222fs)
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
NM_013339.4(ALG6):c.680+1del
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.82+1G>A
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.902+2dup
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.987+1G>T
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_014908.4(DOLK):c.-15C>T rs1272594617
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) rs1719786702
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg) rs1956094478
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
NM_033087.4(ALG2):c.1064A>G (p.His355Arg) rs1246812091
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) rs1939729667

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