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Variants search result for All species
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65 records found for search term Chfr
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156181878CV2338157single nucleotide variantNM_001161346.2(CHFR):c.23A>G (p.Lys8Arg)not specified [RCV004184187]uncertain significance12132887306132887306Humanname
156111477CV2261754single nucleotide variantNM_001161346.2(CHFR):c.42G>C (p.Gln14His)not specified [RCV004126044]uncertain significance12132887287132887287Humanname
329376958CV2455142single nucleotide variantNM_001161346.2(CHFR):c.91G>A (p.Val31Ile)not specified [RCV004272386]uncertain significance12132887238132887238Humanname
401742018CV2676875single nucleotide variantNM_001161346.2(CHFR):c.31C>T (p.Pro11Ser)not specified [RCV004291040]uncertain significance12132887298132887298Humanname
405661462CV3300877single nucleotide variantNM_001161346.2(CHFR):c.29C>T (p.Ser10Leu)not specified [RCV004439180]uncertain significance12132887300132887300Humanname
407455407CV3422676single nucleotide variantNM_001161346.2(CHFR):c.62G>A (p.Arg21His)not specified [RCV004610304]uncertain significance12132887267132887267Humanname
597769156CV3656544single nucleotide variantNM_001161346.2(CHFR):c.37C>T (p.Pro13Ser)not specified [RCV004896660]uncertain significance12132887292132887292Humanname
156198836CV2331164single nucleotide variantNM_001161346.2(CHFR):c.278A>G (p.Gln93Arg)not specified [RCV004181770]uncertain significance12132872350132872350Humanname
329376072CV2467522single nucleotide variantNM_001161346.2(CHFR):c.209G>A (p.Gly70Asp)not specified [RCV004287123]uncertain significance12132877579132877579Humanname
405661444CV3300871single nucleotide variantNM_001161346.2(CHFR):c.124C>T (p.Arg42Trp)not specified [RCV004439174]uncertain significance12132887205132887205Humanname
405661447CV3300872single nucleotide variantNM_001161346.2(CHFR):c.137G>T (p.Cys46Phe)not specified [RCV004439175]uncertain significance12132877651132877651Humanname
405661453CV3300874single nucleotide variantNM_001161346.2(CHFR):c.157A>G (p.Asn53Asp)not specified [RCV004439177]uncertain significance12132877631132877631Humanname
407455421CV3422681single nucleotide variantNM_001161346.2(CHFR):c.169T>C (p.Ser57Pro)not specified [RCV004610309]uncertain significance12132877619132877619Humanname
597769166CV3656546single nucleotide variantNM_001161346.2(CHFR):c.114G>T (p.Trp38Cys)not specified [RCV004896662]uncertain significance12132887215132887215Humanname
15138593CV738568single nucleotide variantNM_001161346.2(CHFR):c.1497G>A (p.Ala499=)not provided [RCV000899009]benign12132848720132848720Humanname
15187496CV738569single nucleotide variantNM_001161346.2(CHFR):c.1416G>A (p.Leu472=)not provided [RCV000909105]benign12132851694132851694Humanname
155927505CV2218398single nucleotide variantNM_001161346.2(CHFR):c.796C>G (p.Arg266Gly)not specified [RCV004090693]uncertain significance12132859183132859183Humanname
156070645CV2293025single nucleotide variantNM_001161346.2(CHFR):c.838G>T (p.Ala280Ser)not specified [RCV004148497]uncertain significance12132859141132859141Humanname
156094708CV2310033single nucleotide variantNM_001161346.2(CHFR):c.866C>T (p.Thr289Met)not specified [RCV004163169]uncertain significance12132859113132859113Humanname
155907378CV2354417single nucleotide variantNM_001161346.2(CHFR):c.814G>A (p.Val272Ile)not specified [RCV004200366]uncertain significance12132859165132859165Humanname
156099077CV2367339single nucleotide variantNM_001161346.2(CHFR):c.335C>G (p.Pro112Arg)not specified [RCV004209246]uncertain significance12132872293132872293Humanname
329400308CV2437623single nucleotide variantNM_001161346.2(CHFR):c.589G>T (p.Gly197Trp)not specified [RCV004260941]uncertain significance12132861629132861629Humanname
401765282CV2712602single nucleotide variantNM_001161346.2(CHFR):c.820G>A (p.Glu274Lys)not specified [RCV004307930]uncertain significance12132859159132859159Humanname
401863002CV2755772single nucleotide variantNM_001161346.2(CHFR):c.753T>G (p.Asp251Glu)not specified [RCV004342148]uncertain significance12132859226132859226Humanname
405661465CV3300878single nucleotide variantNM_001161346.2(CHFR):c.692C>T (p.Ser231Leu)not specified [RCV004439181]uncertain significance12132861526132861526Humanname
405661468CV3300879single nucleotide variantNM_001161346.2(CHFR):c.730G>A (p.Val244Met)not specified [RCV004439182]uncertain significance12132861488132861488Humanname
405661471CV3300880single nucleotide variantNM_001161346.2(CHFR):c.797G>A (p.Arg266His)not specified [RCV004439183]uncertain significance12132859182132859182Humanname
405661473CV3300881single nucleotide variantNM_001161346.2(CHFR):c.953C>T (p.Ser318Leu)not specified [RCV004439184]uncertain significance12132857518132857518Humanname
407455414CV3422678single nucleotide variantNM_001161346.2(CHFR):c.836C>T (p.Ala279Val)not specified [RCV004610306]uncertain significance12132859143132859143Humanname
407455416CV3422679single nucleotide variantNM_001161346.2(CHFR):c.733A>G (p.Lys245Glu)not specified [RCV004610307]uncertain significance12132861485132861485Humanname
407455419CV3422680single nucleotide variantNM_001161346.2(CHFR):c.991C>T (p.Arg331Cys)not specified [RCV004610308]uncertain significance12132857480132857480Humanname
597769148CV3656543single nucleotide variantNM_001161346.2(CHFR):c.830G>A (p.Arg277Lys)not specified [RCV004896659]uncertain significance12132859149132859149Humanname
597769171CV3656547single nucleotide variantNM_001161346.2(CHFR):c.741A>T (p.Lys247Asn)not specified [RCV004896663]uncertain significance12132861477132861477Humanname
597769176CV3656548single nucleotide variantNM_001161346.2(CHFR):c.335C>T (p.Pro112Leu)not specified [RCV004896664]uncertain significance12132872293132872293Humanname
597769181CV3656549single nucleotide variantNM_001161346.2(CHFR):c.651C>G (p.Ser217Arg)not specified [RCV004896665]uncertain significance12132861567132861567Humanname
597769185CV3656550single nucleotide variantNM_001161346.2(CHFR):c.877A>G (p.Ile293Val)not specified [RCV004896666]uncertain significance12132859102132859102Humanname
597769198CV3656552single nucleotide variantNM_001161346.2(CHFR):c.668C>G (p.Pro223Arg)not specified [RCV004896668]uncertain significance12132861550132861550Humanname
598214199CV3951528single nucleotide variantNM_001161346.2(CHFR):c.748G>C (p.Gly250Arg)not specified [RCV005316519]uncertain significance12132861470132861470Humanname
598214204CV3951529single nucleotide variantNM_001161346.2(CHFR):c.967C>T (p.Arg323Cys)not specified [RCV005316520]uncertain significance12132857504132857504Humanname
155797638CV1859440single nucleotide variantNM_001161346.2(CHFR):c.1231C>T (p.Gln411Ter)not provided [RCV002465067]likely pathogenic12132853572132853572Humanname
156138493CV2202826single nucleotide variantNM_001161346.2(CHFR):c.1813C>T (p.Arg605Trp)not specified [RCV004073681]uncertain significance12132844057132844057Humanname
156243977CV2243016single nucleotide variantNM_001161346.2(CHFR):c.1925A>G (p.Asn642Ser)not specified [RCV004109937]uncertain significance12132841588132841588Humanname
155963768CV2330365single nucleotide variantNM_001161346.2(CHFR):c.1748C>T (p.Thr583Met)not specified [RCV004180941]uncertain significance12132844122132844122Humanname
155969150CV2337925single nucleotide variantNM_001161346.2(CHFR):c.1568C>T (p.Pro523Leu)not specified [RCV004183931]uncertain significance12132848649132848649Humanname
155980244CV2343447single nucleotide variantNM_001161346.2(CHFR):c.1462G>A (p.Glu488Lys)not specified [RCV004197521]uncertain significance12132851648132851648Humanname
156113100CV2349095single nucleotide variantNM_001161346.2(CHFR):c.1357G>A (p.Val453Ile)not specified [RCV004205941]uncertain significance12132853446132853446Humanname
156183384CV2353229single nucleotide variantNM_001161346.2(CHFR):c.1496C>T (p.Ala499Val)not specified [RCV004203696]uncertain significance12132848721132848721Humanname
156131453CV2372844single nucleotide variantNM_001161346.2(CHFR):c.1343C>T (p.Ala448Val)not specified [RCV004222026]likely benign12132853460132853460Humanname
155906941CV2379169single nucleotide variantNM_001161346.2(CHFR):c.1655T>C (p.Leu552Pro)not specified [RCV004235959]uncertain significance12132847123132847123Humanname
329382286CV2438691single nucleotide variantNM_001161346.2(CHFR):c.1693G>A (p.Glu565Lys)not specified [RCV004261849]uncertain significance12132847085132847085Humanname
329368095CV2457084single nucleotide variantNM_001161346.2(CHFR):c.1702G>T (p.Val568Leu)not specified [RCV004264866]uncertain significance12132847076132847076Humanname
329378367CV2463654single nucleotide variantNM_001161346.2(CHFR):c.1447C>T (p.Arg483Trp)not specified [RCV004277448]uncertain significance12132851663132851663Humanname
401722070CV2706356single nucleotide variantNM_001161346.2(CHFR):c.1036C>G (p.Leu346Val)not specified [RCV004317201]uncertain significance12132857435132857435Humanname
401874984CV2756159single nucleotide variantNM_001161346.2(CHFR):c.1759G>A (p.Val587Ile)not specified [RCV004338265]uncertain significance12132844111132844111Humanname
405661441CV3300870single nucleotide variantNM_001161346.2(CHFR):c.1118T>G (p.Ile373Ser)not specified [RCV004439173]uncertain significance12132856579132856579Humanname
405661450CV3300873single nucleotide variantNM_001161346.2(CHFR):c.1544C>A (p.Thr515Asn)not specified [RCV004439176]uncertain significance12132848673132848673Humanname
405661456CV3300875single nucleotide variantNM_001161346.2(CHFR):c.1706C>T (p.Ala569Val)not specified [RCV004439178]uncertain significance12132847072132847072Humanname
405661459CV3300876single nucleotide variantNM_001161346.2(CHFR):c.1811A>G (p.Tyr604Cys)not specified [RCV004439179]uncertain significance12132844059132844059Humanname
405661477CV3300882single nucleotide variantNM_001161346.2(CHFR):c.1000G>A (p.Val334Met)not specified [RCV004439185]uncertain significance12132857471132857471Humanname
407455410CV3422677single nucleotide variantNM_001161346.2(CHFR):c.1472C>T (p.Pro491Leu)not specified [RCV004610305]uncertain significance12132851638132851638Humanname
597769193CV3656551single nucleotide variantNM_001161346.2(CHFR):c.1178C>T (p.Ser393Leu)not specified [RCV004896667]uncertain significance12132856519132856519Humanname
598214208CV3951530single nucleotide variantNM_001161346.2(CHFR):c.1802C>T (p.Thr601Ile)not specified [RCV005316521]uncertain significance12132844068132844068Humanname
598214214CV3951532single nucleotide variantNM_001161346.2(CHFR):c.1459C>T (p.Arg487Cys)not specified [RCV005316523]uncertain significance12132851651132851651Humanname
598214218CV3951533single nucleotide variantNM_001161346.2(CHFR):c.1649A>G (p.Asn550Ser)not specified [RCV005316524]uncertain significance12132847129132847129Humanname
598214222CV3951534single nucleotide variantNM_001161346.2(CHFR):c.1664G>T (p.Arg555Ile)not specified [RCV005316525]uncertain significance12132847114132847114Humanname