ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 491
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
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_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys) rs150953098 0.00012
NM_024105.4(ALG12):c.295+1G>A rs376314741 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_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 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_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr) rs757068626 0.00004
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_005787.6(ALG3):c.444+1G>T rs748878963 0.00003
NM_013339.4(ALG6):c.1249del (p.Gln417fs) rs771069984 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.902+1G>A rs1036516188 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 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.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 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_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys) rs754672490 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg) rs777719396 0.00002
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109 0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849 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.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 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.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 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.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 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.145-1G>C rs1057516573 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.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter) rs999384296 0.00001
NM_005216.5(DDOST):c.645G>C (p.Gln215His) rs867045420 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074 0.00001
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) rs1719068613 0.00001
NM_012463.4(ATP6V0A2):c.2293+1G>A rs750984566 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955 0.00001
NM_013339.4(ALG6):c.429+1G>T rs781097055 0.00001
NM_013339.4(ALG6):c.495-2A>G rs1227131990 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_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001
NM_019109.5(ALG1):c.863-2A>G rs768733117 0.00001
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) rs1180515976 0.00001
NM_019109.5(ALG1):c.901+1G>A rs1227251669 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs) rs746988876 0.00001
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118 0.00001
NM_024105.4(ALG12):c.768+1G>A rs188399257 0.00001
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NC_000001.10:g.(?_63867915)_(63868024_?)del
NC_000001.11:g.(?_63396503)_(63396607_?)dup
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
NC_000015.9:g.(?_75188483)_(75190081_?)del
NC_000016.10:g.(?_5080946)_(5097739_?)del
NC_000016.10:g.(?_8847701)_(8847845_?)del
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
NC_000016.9:g.(?_5125369)_(5134882_?)del
NC_000016.9:g.(?_8895646)_(8895777_?)dup
NC_000016.9:g.(?_8898599)_(8898710_?)dup
NC_000020.11:g.(?_50940845)_(50942146_?)del
NM_000303.3(PMM2):c.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.130G>A (p.Val44Ile) rs2060618497
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.179-1G>T rs1166138838
NM_000303.3(PMM2):c.179-25A>G
NM_000303.3(PMM2):c.179-2A>G rs2141019036
NM_000303.3(PMM2):c.189del (p.Lys63fs) rs1057516815
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter) rs1057516943
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
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.348-2A>G
NM_000303.3(PMM2):c.348-2del rs2141022949
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys) rs2141023054
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu) rs1555449617
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
NM_000303.3(PMM2):c.447+2T>A rs1567160054
NM_000303.3(PMM2):c.448-1G>A rs762937296
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.448-2A>T rs2141023331
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.454_455del (p.Asn152fs) rs771240150
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
NM_000303.3(PMM2):c.524-2A>G rs1555449780
NM_000303.3(PMM2):c.527G>T (p.Gly176Val) rs940938678
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr) rs2141024241
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
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.640G>C (p.Gly214Arg)
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.66_66+1delinsTA
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.67-2A>T rs1555448897
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
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.716G>C (p.Arg239Thr)
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) rs2140840645
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) rs398123525
NM_001004127.3(ALG11):c.1A>G (p.Met1Val) rs921941078
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) rs2140807775
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) rs398122394
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp) rs1592225374
NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg) rs768464558
NM_001382.4(DPAGT1):c.643+1G>A rs2134910617
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser) rs1450090350
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs) rs2141208628
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
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.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.144+1G>A
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.145-1G>A rs1057516573
NM_002435.3(MPI):c.15_16+5del rs2141194911
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.169G>A (p.Gly57Arg) rs1225376562
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.199dup (p.Ser67fs)
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.345+1G>A rs1555478333
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.488-1G>A rs759579169
NM_002435.3(MPI):c.497_498del (p.Glu166fs) rs2141200280
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.629del (p.Val210fs) rs1555478606
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>C
NM_002435.3(MPI):c.844+2T>G rs2141206921
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.845-2del rs1555479341
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.89_113del (p.Leu30fs) rs1555478118
NM_002435.3(MPI):c.973del (p.Leu325fs)
NM_002633.3(PGM1):c.1281-2A>G rs1649810314
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
NM_003859.3(DPM1):c.371A>G (p.His124Arg) rs2123115725
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) rs1225648834
NM_003859.3(DPM1):c.495-1G>T
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro) rs587777114
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer) rs2150933483
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) rs1028791709
NM_005787.6(ALG3):c.296+4A>G rs1560164682
NM_005787.6(ALG3):c.2T>C (p.Met1Thr) rs773271124
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) rs2108442073
NM_005787.6(ALG3):c.444+2T>G rs1719083745
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.418-2A>G rs880003306
NM_012463.4(ATP6V0A2):c.1039-1G>A
NM_012463.4(ATP6V0A2):c.117+1del
NM_012463.4(ATP6V0A2):c.118-1G>T rs2135879573
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
NM_012463.4(ATP6V0A2):c.2056-2A>G
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
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.1076T>A (p.Leu359Ter)
NM_013339.4(ALG6):c.1113del (p.Val372fs)
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
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.232del (p.Tyr78fs)
NM_013339.4(ALG6):c.257+2T>C rs1644468935
NM_013339.4(ALG6):c.258-2A>C rs2100415367
NM_013339.4(ALG6):c.258-9_267del rs2100415350
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
NM_013339.4(ALG6):c.347-2A>G
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.429+1G>A
NM_013339.4(ALG6):c.429+2T>C
NM_013339.4(ALG6):c.429+2T>G rs1270337982
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.493del (p.Gln165fs)
NM_013339.4(ALG6):c.495-2A>T rs1227131990
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.654T>A (p.Cys218Ter)
NM_013339.4(ALG6):c.657del (p.Phe219fs)
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.663del (p.Gly222fs)
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
NM_013339.4(ALG6):c.680+1del
NM_013339.4(ALG6):c.681-1G>T
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
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.820A>T (p.Lys274Ter)
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
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.924C>A (p.Ser308Arg)
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
NM_013339.4(ALG6):c.987+1G>T
NM_013339.4(ALG6):c.988-1G>A rs781473515
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.1072+1G>T
NM_019109.5(ALG1):c.1073-1G>A
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
NM_019109.5(ALG1):c.1188-1G>A rs2142728485
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys) rs1957090242
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)
NM_019109.5(ALG1):c.208+1G>A
NM_019109.5(ALG1):c.208+1G>C rs1313166263
NM_019109.5(ALG1):c.209-2A>G rs774618681
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
NM_019109.5(ALG1):c.287-12_289del rs2142701800
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019109.5(ALG1):c.391-2A>G
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.539+1G>A
NM_019109.5(ALG1):c.539_539+1delinsTC
NM_019109.5(ALG1):c.540-2A>T
NM_019109.5(ALG1):c.630-2A>G
NM_019109.5(ALG1):c.740+1G>A
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_019109.5(ALG1):c.961+1G>A
NM_019109.5(ALG1):c.961+1G>C rs373355236
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter) rs1859771094
NM_024079.5(ALG8):c.174+2del
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu) rs748962880
NM_024079.5(ALG8):c.368+1G>A
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400
NM_024105.4(ALG12):c.439_469+19del
NM_024105.4(ALG12):c.664+1G>A
NM_024105.4(ALG12):c.768+1dup
NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) rs1578209906
NM_024740.2(ALG9):c.131+1G>C
NM_024740.2(ALG9):c.701+1G>A rs2137107185
NM_024740.2(ALG9):c.896-2A>G
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)
NM_033087.4(ALG2):c.218_225del (p.Asp73fs) rs1828806280
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)
NM_052859.4(RFT1):c.740dup (p.Lys248fs) rs1701662808
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
NM_138459.5(NUS1):c.542-1G>T
NM_138459.5(NUS1):c.692-1G>A rs1582477100
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys) rs2114696019
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004

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