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Variants search result for All species
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62 records found for search term Nufip1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597710193CV3573621single nucleotide variantNM_012345.3(NUFIP1):c.5C>T (p.Ala2Val)not specified [RCV004840762]uncertain significance134498943244989432Humanname
156361596CV2269277single nucleotide variantNM_012345.3(NUFIP1):c.25G>C (p.Glu9Gln)not specified [RCV004130425]uncertain significance134498941244989412Humanname
405729915CV3355951single nucleotide variantNM_012345.3(NUFIP1):c.19G>C (p.Asp7His)not specified [RCV004496247]uncertain significance134498941844989418Humanname
597710217CV3573625single nucleotide variantNM_012345.3(NUFIP1):c.16A>G (p.Ser6Gly)not specified [RCV004840765]uncertain significance134498942144989421Humanname
15103012CV702696single nucleotide variantNM_012345.3(NUFIP1):c.213C>T (p.Ala71=)not provided [RCV000959393]benign134498922444989224Humanname
15112365CV753854single nucleotide variantNM_012345.3(NUFIP1):c.147A>G (p.Pro49=)not provided [RCV000916897]likely benign134498929044989290Humanname
405729928CV3355952single nucleotide variantNM_012345.3(NUFIP1):c.36C>G (p.Ile12Met)not specified [RCV004496248]uncertain significance134498940144989401Humanname
598234079CV3995147single nucleotide variantNM_012345.3(NUFIP1):c.43C>G (p.His15Asp)not specified [RCV005381813]uncertain significance134498939444989394Humanname
15203072CV702695single nucleotide variantNM_012345.3(NUFIP1):c.357T>C (p.Tyr119=)not provided [RCV000958201]benign134498908044989080Humanname
15117965CV713939single nucleotide variantNM_012345.3(NUFIP1):c.37G>A (p.Gly13Arg)not provided [RCV000962292]benign134498940044989400Humanname
15136550CV739055single nucleotide variantNM_012345.3(NUFIP1):c.627C>T (p.His209=)not provided [RCV000898647]likely benign134497992044979920Humanname
15135516CV753853single nucleotide variantNM_012345.3(NUFIP1):c.648T>C (p.His216=)not provided [RCV000920864]likely benign134497989944979899Humanname
156118168CV2209234single nucleotide variantNM_012345.3(NUFIP1):c.164C>T (p.Pro55Leu)not specified [RCV004093422]uncertain significance134498927344989273Humanname
156401060CV2213809single nucleotide variantNM_012345.3(NUFIP1):c.111G>T (p.Trp37Cys)not specified [RCV004089869]uncertain significance134498932644989326Humanname
156244356CV2243090single nucleotide variantNM_012345.3(NUFIP1):c.205A>G (p.Met69Val)not specified [RCV004110002]uncertain significance134498923244989232Humanname
156338149CV2271226single nucleotide variantNM_012345.3(NUFIP1):c.193T>A (p.Ser65Thr)not specified [RCV004136374]uncertain significance134498924444989244Humanname
329382866CV2465446single nucleotide variantNM_012345.3(NUFIP1):c.214C>A (p.Gln72Lys)not specified [RCV004281216]uncertain significance134498922344989223Humanname
597710208CV3573624single nucleotide variantNM_012345.3(NUFIP1):c.223C>T (p.Pro75Ser)not specified [RCV004840764]likely benign134498921444989214Humanname
15135250CV713937single nucleotide variantNM_012345.3(NUFIP1):c.1470G>A (p.Ala490=)not provided [RCV000965257]benign134494122444941224Humanname
15112359CV753852single nucleotide variantNM_012345.3(NUFIP1):c.1146C>T (p.Pro382=)not provided [RCV000916896]likely benign134494366744943667Humanname
156144243CV2208721single nucleotide variantNM_012345.3(NUFIP1):c.346A>G (p.Thr116Ala)not specified [RCV004084911]uncertain significance134498909144989091Humanname
155973332CV2224601single nucleotide variantNM_012345.3(NUFIP1):c.325C>T (p.Pro109Ser)not specified [RCV004098169]uncertain significance134498911244989112Humanname
156281871CV2252364single nucleotide variantNM_012345.3(NUFIP1):c.843G>A (p.Met281Ile)not specified [RCV004116210]uncertain significance134495955944959559Humanname
156077899CV2351073single nucleotide variantNM_012345.3(NUFIP1):c.356A>G (p.Tyr119Cys)not specified [RCV004213941]uncertain significance134498908144989081Humanname
155909048CV2369389single nucleotide variantNM_012345.3(NUFIP1):c.713G>A (p.Arg238Gln)not specified [RCV004208290]uncertain significance134497921144979211Humanname
155903268CV2386469single nucleotide variantNM_012345.3(NUFIP1):c.338A>G (p.His113Arg)not specified [RCV004230835]uncertain significance134498909944989099Humanname
155996908CV2398624single nucleotide variantNM_012345.3(NUFIP1):c.920G>C (p.Arg307Thr)not specified [RCV004237932]uncertain significance134495948244959482Humanname
329361041CV2436614single nucleotide variantNM_012345.3(NUFIP1):c.407C>T (p.Pro136Leu)not specified [RCV004257993]uncertain significance134498903044989030Humanname
329380719CV2440428single nucleotide variantNM_012345.3(NUFIP1):c.928A>G (p.Thr310Ala)not specified [RCV004256363]uncertain significance134495947444959474Humanname
329379640CV2443496single nucleotide variantNM_012345.3(NUFIP1):c.910T>A (p.Ser304Thr)not specified [RCV004262331]uncertain significance134495949244959492Humanname
329363021CV2449657single nucleotide variantNM_012345.3(NUFIP1):c.469C>T (p.Pro157Ser)not specified [RCV004268569]uncertain significance134498209844982098Humanname
329379935CV2452842single nucleotide variantNM_012345.3(NUFIP1):c.538G>A (p.Asp180Asn)not specified [RCV004277494]uncertain significance134498077844980778Humanname
401765701CV2683394single nucleotide variantNM_012345.3(NUFIP1):c.658A>G (p.Met220Val)not specified [RCV004288164]uncertain significance134497926644979266Humanname
401777859CV2704405single nucleotide variantNM_012345.3(NUFIP1):c.814A>G (p.Thr272Ala)not specified [RCV004311372]uncertain significance134496585744965857Humanname
405729935CV3355953single nucleotide variantNM_012345.3(NUFIP1):c.542G>A (p.Arg181His)not specified [RCV004496249]uncertain significance134498077444980774Humanname
405729944CV3355954single nucleotide variantNM_012345.3(NUFIP1):c.841A>T (p.Met281Leu)not specified [RCV004496250]uncertain significance134495956144959561Humanname
405729953CV3355955single nucleotide variantNM_012345.3(NUFIP1):c.974C>T (p.Pro325Leu)not specified [RCV004496251]uncertain significance134495942844959428Humanname
407521851CV3462329single nucleotide variantNM_012345.3(NUFIP1):c.359G>T (p.Trp120Leu)not specified [RCV004652662]uncertain significance134498907844989078Humanname
407477598CV3462332single nucleotide variantNM_012345.3(NUFIP1):c.673A>C (p.Met225Leu)not specified [RCV004638841]uncertain significance134497925144979251Humanname
407521857CV3462333single nucleotide variantNM_012345.3(NUFIP1):c.740A>G (p.Tyr247Cys)not specified [RCV004652664]uncertain significance134496593144965931Humanname
597645232CV3573620single nucleotide variantNM_012345.3(NUFIP1):c.326C>T (p.Pro109Leu)not specified [RCV004832665]uncertain significance134498911144989111Humanname
597710200CV3573623single nucleotide variantNM_012345.3(NUFIP1):c.988G>C (p.Asp330His)not specified [RCV004840763]uncertain significance134495941444959414Humanname
597710225CV3573626single nucleotide variantNM_012345.3(NUFIP1):c.527G>T (p.Cys176Phe)not specified [RCV004840766]uncertain significance134498078944980789Humanname
597710234CV3573627single nucleotide variantNM_012345.3(NUFIP1):c.740A>T (p.Tyr247Phe)not specified [RCV004840767]uncertain significance134496593144965931Humanname
598265766CV3995144single nucleotide variantNM_012345.3(NUFIP1):c.375T>A (p.Asp125Glu)not specified [RCV005387999]uncertain significance134498906244989062Humanname
598234085CV3995148single nucleotide variantNM_012345.3(NUFIP1):c.558A>C (p.Gln186His)not specified [RCV005381814]uncertain significance134498075844980758Humanname
598234090CV3995149single nucleotide variantNM_012345.3(NUFIP1):c.992C>T (p.Pro331Leu)not specified [RCV005381815]uncertain significance134495941044959410Humanname
155963096CV2308236single nucleotide variantNM_012345.3(NUFIP1):c.1204A>G (p.Lys402Glu)not specified [RCV004164735]uncertain significance134494360944943609Humanname
156191952CV2335962single nucleotide variantNM_012345.3(NUFIP1):c.1013G>A (p.Ser338Asn)not specified [RCV004189571]uncertain significance134495938944959389Humanname
155969022CV2337908single nucleotide variantNM_012345.3(NUFIP1):c.1268G>A (p.Arg423Gln)not specified [RCV004183915]likely benign134494354544943545Humanname
156402196CV2368158single nucleotide variantNM_012345.3(NUFIP1):c.1241A>G (p.Asn414Ser)not specified [RCV004216503]uncertain significance134494357244943572Humanname
156210629CV2370259single nucleotide variantNM_012345.3(NUFIP1):c.1325A>G (p.Gln442Arg)not specified [RCV004213177]uncertain significance134494348844943488Humanname
156214393CV2385916single nucleotide variantNM_012345.3(NUFIP1):c.1267C>G (p.Arg423Gly)not specified [RCV004226954]uncertain significance134494354644943546Humanname
329401409CV2460879single nucleotide variantNM_012345.3(NUFIP1):c.1147A>G (p.Ile383Val)not specified [RCV004271184]uncertain significance134494366644943666Humanname
329393121CV2469335single nucleotide variantNM_012345.3(NUFIP1):c.1149C>G (p.Ile383Met)not specified [RCV004280666]uncertain significance134494366444943664Humanname
405729898CV3355949single nucleotide variantNM_012345.3(NUFIP1):c.1273A>C (p.Lys425Gln)not specified [RCV004496245]uncertain significance134494354044943540Humanname
405729906CV3355950single nucleotide variantNM_012345.3(NUFIP1):c.1336G>A (p.Glu446Lys)not specified [RCV004496246]uncertain significance134494347744943477Humanname
407477590CV3462330single nucleotide variantNM_012345.3(NUFIP1):c.1075C>T (p.Pro359Ser)not specified [RCV004638840]uncertain significance134494978544949785Humanname
407477603CV3462334single nucleotide variantNM_012345.3(NUFIP1):c.1293C>A (p.Asn431Lys)not specified [RCV004638842]uncertain significance134494352044943520Humanname
597645224CV3573622single nucleotide variantNM_012345.3(NUFIP1):c.1014T>A (p.Ser338Arg)not specified [RCV004832666]uncertain significance134495938844959388Humanname
598234072CV3995146single nucleotide variantNM_012345.3(NUFIP1):c.1148T>A (p.Ile383Asn)not specified [RCV005381812]uncertain significance134494366544943665Humanname
15157292CV713938single nucleotide variantNM_012345.3(NUFIP1):c.1191T>A (p.Asp397Glu)not provided [RCV000969281]benign134494362244943622Humanname