ClinVar Miner

List of variants in gene NUS1 reported as uncertain significance for congenital disorder of glycosylation, type IAA

Included ClinVar conditions (1):
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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) rs146171115 0.00039
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.805C>T (p.His269Tyr) rs1038995750 0.00013
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) rs1052237 0.00009
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser) rs779673665 0.00007
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00006
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe) rs896791770 0.00005
NM_138459.5(NUS1):c.445A>G (p.Met149Val) rs1276753307 0.00003
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser) rs1433668009 0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg) rs771454891 0.00002
NM_138459.5(NUS1):c.674C>T (p.Thr225Met) rs760187558 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) rs934670535 0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val) rs1472312886 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 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.262C>T (p.Arg88Cys) rs1426327353 0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln) rs1369494529 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.46C>T (p.Leu16Phe) rs962512059 0.00001
NM_138459.5(NUS1):c.487G>C (p.Asp163His) rs369403261 0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu) rs751210637 0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile) rs1238998019 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.845G>A (p.Arg282His) rs140791750 0.00001
NC_000006.11:g.(?_118028088)_(118028178_?)del
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp) rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) rs1327892878
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser) rs764639190
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr) rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu) rs2114674826
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg) rs2114674884
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp) rs2114686687
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
NM_138459.5(NUS1):c.420T>G (p.Ile140Met) rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn) rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
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.524A>G (p.Asn175Ser) rs1438675724
NM_138459.5(NUS1):c.52C>G (p.Leu18Val) rs1772962465
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
NM_138459.5(NUS1):c.541+5G>T
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser) rs2114687377
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala) rs765038821
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu) rs2114687441
NM_138459.5(NUS1):c.627G>T (p.Gln209His)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
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)
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly) rs2114693915
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
NM_138459.5(NUS1):c.791+6T>C
NM_138459.5(NUS1):c.792-3C>G
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)
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp) rs2114696027
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)

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