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Variants search result for All species
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46 records found for search term Prdx3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
243050862CV2417572single nucleotide variantPRDX3, ARG15TERSpinocerebellar ataxia, autosomal recessive 32 [RCV003152443]pathogenicHumanname
152982139CV1679108single nucleotide variantNM_006793.5(PRDX3):c.37-2A>GSpinocerebellar ataxia, autosomal recessive 32 [RCV002248454]pathogenic10119177155119177155Human1name
405265505CV3185724single nucleotide variantNM_006793.5(PRDX3):c.717+1G>Anot provided [RCV003886288]likely pathogenic10119169176119169176Humanname
405660865CV3377939single nucleotide variantNM_006793.5(PRDX3):c.169+1G>AInborn genetic diseases [RCV004512886]|Spinocerebellar ataxia, autosomal recessive 32 [RCV004759406]pathogenic|uncertain significance10119177020119177020Human2name
155931016CV2361312single nucleotide variantNM_006793.5(PRDX3):c.8C>T (p.Ala3Val)Inborn genetic diseases [RCV002684170]uncertain significance10119178783119178783Human1name
597694593CV3581240single nucleotide variantNM_006793.5(PRDX3):c.16G>A (p.Gly6Arg)Inborn genetic diseases [RCV004954636]uncertain significance10119178775119178775Human1name
597694601CV3581241single nucleotide variantNM_006793.5(PRDX3):c.204T>C (p.His68=)Inborn genetic diseases [RCV004954637]likely benign10119174558119174558Human1name
150547681CV1316143single nucleotide variantNM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)Autosomal recessive cerebellar ataxia [RCV001785420]|Corneal dystrophy, punctiform and polychromatic pre-descemet [RCV003989712]|Spinocerebellar ataxia, autosomal recessive 32 [RCV003225750]|not provided [RCV003487782]pathogenic|likely pathogenic10119177147119177147Human3name
156243100CV2231485single nucleotide variantNM_006793.5(PRDX3):c.50T>C (p.Val17Ala)Inborn genetic diseases [RCV002713500]uncertain significance10119177140119177140Human1name
401896860CV2788881single nucleotide variantNM_006793.5(PRDX3):c.76G>T (p.Ala26Ser)Inborn genetic diseases [RCV003374501]uncertain significance10119177114119177114Human1name
401928653CV2809663single nucleotide variantNM_006793.5(PRDX3):c.387T>C (p.Val129=)not provided [RCV003389945]likely benign10119173797119173797Humanname
407465166CV3464209single nucleotide variantNM_006793.5(PRDX3):c.44G>A (p.Arg15Gln)Inborn genetic diseases [RCV004660136]uncertain significance10119177146119177146Human1name
152982136CV1679105duplicationNM_006793.5(PRDX3):c.340dup (p.Ala114fs)Spinocerebellar ataxia, autosomal recessive 32 [RCV002248451]pathogenic10119173843119173844Human1name
401874843CV2756090single nucleotide variantNM_006793.5(PRDX3):c.137C>G (p.Ser46Cys)Inborn genetic diseases [RCV003347469]uncertain significance10119177053119177053Human1name
401877654CV2786733single nucleotide variantNM_006793.5(PRDX3):c.113C>T (p.Thr38Met)Inborn genetic diseases [RCV003383837]uncertain significance10119177077119177077Human1name
405660872CV3377941single nucleotide variantNM_006793.5(PRDX3):c.220G>C (p.Gly74Arg)Inborn genetic diseases [RCV004512888]uncertain significance10119174542119174542Human1name
616937852CV4013785single nucleotide variantNM_006793.5(PRDX3):c.266A>G (p.Asp89Gly)Spinocerebellar ataxia, autosomal recessive 32 [RCV005413277]uncertain significance10119174496119174496Human1name
152982135CV1679104single nucleotide variantNM_006793.5(PRDX3):c.604G>A (p.Asp202Asn)Spinocerebellar ataxia, autosomal recessive 32 [RCV002248450]pathogenic10119169290119169290Human1name
152982137CV1679106single nucleotide variantNM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)Spinocerebellar ataxia, autosomal recessive 32 [RCV002248452]pathogenic|likely pathogenic10119172425119172425Human1name
152982138CV1679107single nucleotide variantNM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)Spinocerebellar ataxia, autosomal recessive 32 [RCV002248453]|not provided [RCV004801180]pathogenic|uncertain significance10119173759119173759Human1name
152982140CV1679109single nucleotide variantNM_006793.5(PRDX3):c.568G>C (p.Asp190His)Corneal dystrophy, punctiform and polychromatic pre-descemet [RCV002248455]pathogenic10119169326119169326Human1name
155267825CV1701387single nucleotide variantNM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)Spinocerebellar ataxia, autosomal recessive 32 [RCV002283612]uncertain significance10119172482119172482Human1name
155964067CV2194224single nucleotide variantNM_006793.5(PRDX3):c.391G>A (p.Ala131Thr)Inborn genetic diseases [RCV002686895]|not provided [RCV004801301]uncertain significance10119173793119173793Human1name
156275028CV2202691single nucleotide variantNM_006793.5(PRDX3):c.625G>A (p.Val209Met)Inborn genetic diseases [RCV002669787]uncertain significance10119169269119169269Human1name
155980889CV2343664single nucleotide variantNM_006793.5(PRDX3):c.716C>T (p.Thr239Met)Inborn genetic diseases [RCV002946660]uncertain significance10119169178119169178Human1name
155929532CV2369770single nucleotide variantNM_006793.5(PRDX3):c.386T>C (p.Val129Ala)Inborn genetic diseases [RCV002993080]uncertain significance10119173798119173798Human1name
156083737CV2381917single nucleotide variantNM_006793.5(PRDX3):c.720C>G (p.Ile240Met)Inborn genetic diseases [RCV002694663]uncertain significance10119168531119168531Human1name
243051343CV2403912single nucleotide variantNM_006793.5(PRDX3):c.299A>G (p.Tyr100Cys)not provided [RCV003128895]uncertain significance10119174463119174463Humanname
243051980CV2404244single nucleotide variantNM_006793.5(PRDX3):c.319G>A (p.Val107Met)not provided [RCV003129270]uncertain significance10119173865119173865Humanname
243050864CV2417573single nucleotide variantNM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)Spinocerebellar ataxia, autosomal recessive 32 [RCV003152444]pathogenic10119169236119169236Human1name
329351259CV2421545single nucleotide variantNM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)Spinocerebellar ataxia, autosomal recessive 32 [RCV003159262]pathogenic10119172444119172444Human1name
329385501CV2451500single nucleotide variantNM_006793.5(PRDX3):c.730C>A (p.Pro244Thr)Inborn genetic diseases [RCV003214453]uncertain significance10119168521119168521Human1name
329373106CV2455876single nucleotide variantNM_006793.5(PRDX3):c.515A>G (p.Tyr172Cys)Inborn genetic diseases [RCV003210335]uncertain significance10119172418119172418Human1name
401733590CV2713144single nucleotide variantNM_006793.5(PRDX3):c.692C>T (p.Ala231Val)Inborn genetic diseases [RCV003272371]uncertain significance10119169202119169202Human1name
401903744CV2809662single nucleotide variantNM_006793.5(PRDX3):c.517G>T (p.Gly173Cys)not provided [RCV003394522]likely benign10119172416119172416Humanname
405660875CV3377942single nucleotide variantNM_006793.5(PRDX3):c.341C>G (p.Ala114Gly)Inborn genetic diseases [RCV004512889]uncertain significance10119173843119173843Human1name
405660878CV3377943single nucleotide variantNM_006793.5(PRDX3):c.472A>T (p.Ile158Phe)Inborn genetic diseases [RCV004512890]uncertain significance10119172461119172461Human1name
405660881CV3377944single nucleotide variantNM_006793.5(PRDX3):c.520G>T (p.Val174Leu)Inborn genetic diseases [RCV004512891]uncertain significance10119172413119172413Human1name
405660885CV3377945single nucleotide variantNM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)Inborn genetic diseases [RCV004512892]|Spinocerebellar ataxia, autosomal recessive 32 [RCV004759407]pathogenic|uncertain significance10119172394119172394Human2name
405660888CV3377946single nucleotide variantNM_006793.5(PRDX3):c.704C>T (p.Pro235Leu)Inborn genetic diseases [RCV004512893]uncertain significance10119169190119169190Human1name
407465162CV3464208single nucleotide variantNM_006793.5(PRDX3):c.424G>A (p.Ala142Thr)Inborn genetic diseases [RCV004660135]uncertain significance10119173760119173760Human1name
407512897CV3464210single nucleotide variantNM_006793.5(PRDX3):c.580G>A (p.Val194Ile)Inborn genetic diseases [RCV004648578]uncertain significance10119169314119169314Human1name
598179732CV3904266single nucleotide variantNM_006793.5(PRDX3):c.598G>A (p.Val200Ile)Inborn genetic diseases [RCV005264890]uncertain significance10119169296119169296Human1name
598179735CV3904267single nucleotide variantNM_006793.5(PRDX3):c.626T>C (p.Val209Ala)Inborn genetic diseases [RCV005264891]uncertain significance10119169268119169268Human1name
598179738CV3904268single nucleotide variantNM_006793.5(PRDX3):c.682G>T (p.Val228Phe)Inborn genetic diseases [RCV005264892]uncertain significance10119169212119169212Human1name
617150446CV4018990single nucleotide variantNM_006793.5(PRDX3):c.652G>A (p.Ala218Thr)not provided [RCV005423398]uncertain significance10119169242119169242Humanname