ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of glycosylation, type IAA by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) rs146171115 0.00038
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn) rs761121795 0.00029
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu) rs557867164 0.00020
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00015
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys) rs150953098 0.00012
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser) rs779673665 0.00009
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) rs1052237 0.00009
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe) rs896791770 0.00005
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro) rs1459946325 0.00005
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile) rs747953460 0.00004
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys) rs931066153 0.00003
NM_138459.5(NUS1):c.301A>G (p.Met101Val) rs988797644 0.00003
NM_138459.5(NUS1):c.307C>G (p.Leu103Val) rs533893099 0.00003
NM_138459.5(NUS1):c.445A>G (p.Met149Val) rs1276753307 0.00003
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly) rs765038821 0.00003
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr) rs1039640812 0.00002
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser) rs1433668009 0.00002
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro) rs1198106267 0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg) rs771454891 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg) rs1287068904 0.00002
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) rs934670535 0.00001
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr) rs759672395 0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val) rs1472312886 0.00001
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp) rs1379290530 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser) rs764639190 0.00001
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser) rs1436843770 0.00001
NM_138459.5(NUS1):c.185T>G (p.Val62Gly) rs754191035 0.00001
NM_138459.5(NUS1):c.202C>T (p.His68Tyr) rs1392977734 0.00001
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln) rs1006753900 0.00001
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu) rs1294744875 0.00001
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu) rs898267866 0.00001
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys) rs1426327353 0.00001
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr) rs746969718 0.00001
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp) rs1473876877 0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln) rs1369494529 0.00001
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser) rs1464231854 0.00001
NM_138459.5(NUS1):c.313A>G (p.Ile105Val) rs555373875 0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg) rs540846579 0.00001
NM_138459.5(NUS1):c.351C>G (p.Ile117Met) rs1344911571 0.00001
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp) rs1283480592 0.00001
NM_138459.5(NUS1):c.446T>C (p.Met149Thr) rs755890798 0.00001
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe) rs962512059 0.00001
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro) rs1475841573 0.00001
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser) rs1438675724 0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu) rs751210637 0.00001
NM_138459.5(NUS1):c.540A>G (p.Gln180=) rs758984555 0.00001
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys) rs1314561700 0.00001
NM_138459.5(NUS1):c.598A>G (p.Ile200Val) rs751755046 0.00001
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr) rs755280454 0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile) rs1238998019 0.00001
NM_138459.5(NUS1):c.627G>T (p.Gln209His) rs1279878128 0.00001
NM_138459.5(NUS1):c.674C>T (p.Thr225Met) rs760187558 0.00001
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser) rs1198292880 0.00001
NM_138459.5(NUS1):c.787A>G (p.Ile263Val) rs1773460765 0.00001
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021 0.00001
NM_138459.5(NUS1):c.805C>T (p.His269Tyr) rs1038995750 0.00001
NM_138459.5(NUS1):c.845G>A (p.Arg282His) rs140791750 0.00001
NC_000006.11:g.(?_117786180)_(117997268_?)dup
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys) rs1251248891
NM_138459.5(NUS1):c.106A>T (p.Ile36Phe)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met) rs1396393146
NM_138459.5(NUS1):c.112C>T (p.Arg38Trp)
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp) rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys) rs1288388432
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro) rs1772965082
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) rs1327892878
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro) rs1238893479
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro) rs2481982726
NM_138459.5(NUS1):c.13T>C (p.Tyr5His)
NM_138459.5(NUS1):c.14A>T (p.Tyr5Phe)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu) rs1308278410
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala) rs1436843770
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del) rs2481982213
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp) rs2481982226
NM_138459.5(NUS1):c.196_197delinsGA (p.Arg66Asp)
NM_138459.5(NUS1):c.197G>A (p.Arg66His) rs539668656
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys) rs1433668009
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr) rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser) rs1460197813
NM_138459.5(NUS1):c.217C>T (p.Arg73Cys)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp) rs1041259462
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp) rs2481983114
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala) rs2481983138
NM_138459.5(NUS1):c.22G>C (p.Val8Leu)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu) rs778592524
NM_138459.5(NUS1):c.236C>T (p.Ala79Val) rs1202740714
NM_138459.5(NUS1):c.245A>T (p.His82Leu)
NM_138459.5(NUS1):c.251G>A (p.Arg84Gln)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys) rs757989392
NM_138459.5(NUS1):c.259T>G (p.Trp87Gly)
NM_138459.5(NUS1):c.268G>A (p.Asp90Asn)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser) rs1035585867
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly) rs1035585867
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala) rs746969718
NM_138459.5(NUS1):c.290T>A (p.Leu97Gln)
NM_138459.5(NUS1):c.295G>T (p.Val99Leu)
NM_138459.5(NUS1):c.299A>C (p.His100Pro) rs1772972548
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys) rs2481982311
NM_138459.5(NUS1):c.302T>C (p.Met101Thr) rs1335361386
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg) rs2481983725
NM_138459.5(NUS1):c.346G>C (p.Asp116His) rs1321831305
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser) rs2481983813
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu) rs2114674826
NM_138459.5(NUS1):c.358C>G (p.Leu120Val)
NM_138459.5(NUS1):c.362T>C (p.Val121Ala)
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser) rs2481983858
NM_138459.5(NUS1):c.385A>G (p.Ile129Val) rs2481983925
NM_138459.5(NUS1):c.3G>A (p.Met1Ile) rs2481982177
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg) rs2114674884
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser) rs2481983998
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp) rs2114686687
NM_138459.5(NUS1):c.418A>G (p.Ile140Val) rs2482014003
NM_138459.5(NUS1):c.420T>G (p.Ile140Met) rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys) rs1773263886
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr) rs1231790695
NM_138459.5(NUS1):c.469C>G (p.Gln157Glu)
NM_138459.5(NUS1):c.470A>G (p.Gln157Arg)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe) rs915423342
NM_138459.5(NUS1):c.482G>A (p.Gly161Asp)
NM_138459.5(NUS1):c.487G>C (p.Asp163His) rs369403261
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn) rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg) rs1245004786
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys) rs2482014246
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala) rs1475841573
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys) rs1773265457
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn) rs2482014298
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp) rs28362518
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr) rs28362518
NM_138459.5(NUS1):c.52C>G (p.Leu18Val) rs1772962465
NM_138459.5(NUS1):c.541+5G>A
NM_138459.5(NUS1):c.541+5G>T rs1253384171
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser) rs2114687377
NM_138459.5(NUS1):c.550T>G (p.Cys184Gly)
NM_138459.5(NUS1):c.554A>T (p.His185Leu) rs1474271739
NM_138459.5(NUS1):c.56A>T (p.His19Leu) rs1225757804
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala) rs1562179355
NM_138459.5(NUS1):c.57C>G (p.His19Gln) rs974335534
NM_138459.5(NUS1):c.58C>G (p.Arg20Gly)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala) rs765038821
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro) rs529145043
NM_138459.5(NUS1):c.5C>T (p.Thr2Met)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu) rs1238998019
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu) rs2114687441
NM_138459.5(NUS1):c.62C>T (p.Thr21Met)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser) rs1773282344
NM_138459.5(NUS1):c.643C>A (p.Gln215Lys)
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu) rs2482016145
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile) rs375663235
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro) rs2482016216
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg) rs2482016239
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del) rs1772963203
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138459.5(NUS1):c.71C>T (p.Ser24Phe)
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly) rs2114693915
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser) rs2482032210
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe) rs1188432185
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr) rs2482032255
NM_138459.5(NUS1):c.791+6T>C rs2482032266
NM_138459.5(NUS1):c.792-3C>G rs1344996560
NM_138459.5(NUS1):c.794C>G (p.Ser265Cys)
NM_138459.5(NUS1):c.7G>A (p.Gly3Arg) rs1772960680
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.842T>C (p.Leu281Pro) rs2482037951
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly) rs150953098
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu) rs2482038040
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp) rs2114696027
NM_138459.5(NUS1):c.89T>G (p.Phe30Cys)
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle) rs2481982584
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala) rs1194515810
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile) rs2481982603

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