ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 470
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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_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.722G>C (p.Cys241Ser) rs80338709 0.00027
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_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_000303.3(PMM2):c.255+2T>C rs139716296 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_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter) rs780107088 0.00004
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) rs118203913 0.00004
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 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.998C>T (p.Ala333Val) rs121908443 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540 0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 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_002435.3(MPI):c.264del (p.Asp88fs) rs868127074 0.00002
NM_003859.3(DPM1):c.455G>T (p.Gly152Val) rs587777116 0.00002
NM_005787.6(ALG3):c.1061G>A (p.Arg354His) rs546890576 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_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
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.310C>G (p.Leu104Val) rs770458492 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.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.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.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 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.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_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) rs1324743951 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.510del (p.Gly172fs) rs773277552 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_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter) rs750451819 0.00001
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg) rs121908340 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter) rs1956935335 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter) rs772492143 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) rs1557794919 0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NC_000001.10:g.(?_63836639)_(63902701_?)del
NC_000001.10:g.(?_63836649)_(63836750_?)del
NC_000001.10:g.(?_63867905)_(63902691_?)del
NC_000001.10:g.(?_63885021)_(63885131_?)del
NC_000001.11:g.(?_63428723)_(63429136_?)del
NC_000004.11:g.(?_56225493)_(56225675_?)del
NC_000006.11:g.(?_116441236)_(119252888_?)del
NC_000006.11:g.(?_117996834)_(117997268_?)del
NC_000006.11:g.(?_118014185)_(118014350_?)del
NC_000009.11:g.(?_130216807)_(130953136_?)del
NC_000011.9:g.(?_111657121)_(111922093_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000013.10:g.(?_52585403)_(52602726_?)del
NC_000016.10:g.(?_8779459)_(8847845_?)del
NC_000016.10:g.(?_8797873)_(8797958_?)del
NC_000016.10:g.(?_8797873)_(8813116_?)del
NC_000016.10:g.(?_8804742)_(8804853_?)del
NC_000016.10:g.(?_8804742)_(8813116_?)del
NC_000016.10:g.(?_8811069)_(8832245_?)del
NC_000016.9:g.(?_5121851)_(5125557_?)del
NC_000016.9:g.(?_5121851)_(5134882_?)del
NC_000016.9:g.(?_8895646)_(8895777_?)del
NC_000016.9:g.(?_8900163)_(8941692_?)del
NC_000016.9:g.(?_8905475)_(8905590_?)del
NC_000016.9:g.(?_8906828)_(8906983_?)del
NC_000020.10:g.(?_49507942)_(49576762_?)del
NC_000020.11:g.(?_50934864)_(50958574_?)del
NC_000022.10:g.(?_50297466)_(51066227_?)del
NC_000022.10:g.(?_50297486)_(50307413_?)del
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.201_202del (p.Phe68fs) rs1343161886
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
NM_000303.3(PMM2):c.231del (p.Asp78fs)
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) rs2060637616
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.255+1G>C
NM_000303.3(PMM2):c.255+2T>G
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.264_265del (p.His90fs) rs2141019983
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
NM_000303.3(PMM2):c.377_381del (p.Met126fs) rs2141022986
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.385G>T (p.Val129Leu) rs104894525
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe) rs753632453
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter) rs2141023340
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.457dup (p.Ile153fs) rs2141023345
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter) rs754407762
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.523+1del rs2141023403
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.562del (p.Asp188fs)
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.584_585del (p.His195fs)
NM_000303.3(PMM2):c.59del (p.Pro20fs) rs2141014161
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.639+2T>C
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
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+1G>A rs937726878
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.67-2A>G
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>G (p.Tyr229Ter) rs148759949
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.715A>T (p.Arg239Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.73dup (p.Thr25fs) rs2141016934
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1034dup (p.Thr346fs) rs2141208718
NM_002435.3(MPI):c.1053+2T>C rs2141208760
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
NM_002435.3(MPI):c.1166del (p.Pro389fs)
NM_002435.3(MPI):c.122del (p.Ala41fs)
NM_002435.3(MPI):c.150G>A (p.Trp50Ter) rs1406722622
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.206del (p.Lys69fs)
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
NM_002435.3(MPI):c.335_338del (p.His112fs) rs2141197839
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.370dup (p.Gln124fs)
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.593dup (p.Ser199fs)
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer) rs2141200617
NM_002435.3(MPI):c.657del (p.Ile220fs)
NM_002435.3(MPI):c.65del (p.Gly22fs)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.706dup (p.Glu236fs)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.745dup (p.Ile249fs) rs2141206676
NM_002435.3(MPI):c.751del (p.Cys251fs)
NM_002435.3(MPI):c.753del (p.Phe252fs) rs2141206722
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
NM_002435.3(MPI):c.792dup (p.Gly265fs)
NM_002435.3(MPI):c.820dup (p.Val274fs) rs1567268668
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.119del (p.Ile40fs)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) rs759220275
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer) rs1350257432
NM_003859.3(DPM1):c.182del (p.Ile61fs)
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.3(DPM1):c.490_493del (p.Ile164fs) rs781115721
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
NM_003859.3(DPM1):c.52del (p.Glu18fs) rs759278634
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.29del (p.Gly10fs)
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) rs958086368
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
NM_012463.4(ATP6V0A2):c.1605+1G>A rs1956646992
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) rs1956686080
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) rs2135920743
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1029dup (p.His344fs)
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
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.1171_1172del (p.Val391fs) rs2100440701
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter) rs759308812
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter) rs1644631921
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1326+1G>T rs1475789647
NM_013339.4(ALG6):c.1338dup (p.Val447fs) rs1644681692
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.147del (p.Phe49fs)
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs) rs2100412885
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
NM_013339.4(ALG6):c.290del (p.Leu97fs) rs1644480895
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter) rs1240285695
NM_013339.4(ALG6):c.352del (p.Ile118fs)
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter) rs2100417039
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
NM_013339.4(ALG6):c.452del (p.Leu151fs) rs1349358854
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs) rs2100417620
NM_013339.4(ALG6):c.492dup (p.Gln165fs) rs1644493041
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
NM_013339.4(ALG6):c.574del (p.Ala192fs) rs2100420854
NM_013339.4(ALG6):c.634del (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.642del (p.Leu214fs)
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.714del (p.Val239fs)
NM_013339.4(ALG6):c.723del (p.Phe242fs) rs755112036
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
NM_013339.4(ALG6):c.789_790del (p.Phe264fs) rs767943869
NM_013339.4(ALG6):c.791del (p.Phe264fs) rs2100421716
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
NM_013339.4(ALG6):c.835del (p.Trp279fs) rs2100423312
NM_013339.4(ALG6):c.849del (p.Asn283fs) rs1644530448
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg) rs398124347
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
NM_019109.5(ALG1):c.1063del (p.Leu355fs) rs758259853
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu) rs1386102245
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
NM_019109.5(ALG1):c.1263+2T>C
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter) rs199553558
NM_019109.5(ALG1):c.318dup (p.Val107fs)
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs) rs1956891979
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
NM_019109.5(ALG1):c.710del (p.Leu237fs)
NM_019109.5(ALG1):c.711_726del (p.Gly238fs) rs756236917
NM_019109.5(ALG1):c.739del (p.Arg247fs)
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
NM_019109.5(ALG1):c.786del (p.Glu262fs)
NM_019109.5(ALG1):c.875del (p.Phe292fs)
NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
NM_019109.5(ALG1):c.91del (p.Ala31fs)
NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
NM_019109.5(ALG1):c.969del (p.Pro324fs)
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
NM_024079.5(ALG8):c.141_144del (p.His48fs)
NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824del (p.Gly275fs)
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
NM_024105.4(ALG12):c.30del (p.Leu12fs)
NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter) rs754565538
NM_024105.4(ALG12):c.522G>A (p.Trp174Ter) rs2146607840
NM_024105.4(ALG12):c.688dup (p.Tyr230fs) rs1569175744
NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter) rs2147585338
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter) rs1482361634
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
NM_024740.2(ALG9):c.992del (p.Met331fs) rs2136936118
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter) rs1449400618
NM_138459.5(NUS1):c.225del (p.Ser76fs)
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
NM_138459.5(NUS1):c.250dup (p.Arg84fs)
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
NM_138459.5(NUS1):c.378del (p.Val127fs)
NM_138459.5(NUS1):c.415+2T>G
NM_138459.5(NUS1):c.482del (p.Gly161fs)
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter) rs2114693896
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter) rs1772963498
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter) rs2114674385
NM_138459.5(NUS1):c.765_769dup (p.His257fs) rs2114693926
NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
NM_138459.5(NUS1):c.99dup (p.Asn34fs) rs1582461023
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) rs1444066075
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) rs2102491600
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) rs749000879
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.5del (p.Thr2fs)

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