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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


262 records found for search term Dnase1l3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
404984455CV2849412single nucleotide variantNM_004944.4(DNASE1L3):c.-6G>Anot specified [RCV003489284]benign35821091258210912Humanname
405285806CV3209721single nucleotide variantNM_004944.4(DNASE1L3):c.-7C>TDNASE1L3-related disorder [RCV003959287]benign35821091358210913Humanname , trait , alternate_id
127237358CV1092812single nucleotide variantNM_004944.4(DNASE1L3):c.547-4T>Cnot provided [RCV001433518]likely benign35819798258197982Humanname
127307052CV1154540single nucleotide variantNM_004944.4(DNASE1L3):c.546+5G>Tnot provided [RCV001516920]|not specified [RCV003487361]benign35820099258200992Humanname
151847286CV1409538single nucleotide variantNM_004944.4(DNASE1L3):c.433+6A>Tnot provided [RCV001882122]uncertain significance35820476358204763Humanname
151836889CV1416778single nucleotide variantNM_004944.4(DNASE1L3):c.704+4G>Anot provided [RCV002014887]uncertain significance35819781758197817Humanname
151823075CV1448399single nucleotide variantNM_004944.4(DNASE1L3):c.802-3T>Cnot provided [RCV001934335]uncertain significance35819280658192806Humanname
151841104CV1463060single nucleotide variantNM_004944.4(DNASE1L3):c.141+5G>Cnot provided [RCV002031828]uncertain significance35821076158210761Humanname
151839612CV1492957single nucleotide variantNM_004944.4(DNASE1L3):c.546+6G>Tnot provided [RCV001881183]uncertain significance35820099158200991Humanname
151784990CV1499128single nucleotide variantNM_004944.4(DNASE1L3):c.230+1G>Anot provided [RCV002026623]likely pathogenic35820821758208217Humanname
156416795CV1898166single nucleotide variantNM_004944.4(DNASE1L3):c.546+8C>Tnot provided [RCV002610364]|not specified [RCV005406596]likely benign|uncertain significance35820098958200989Humanname
156236812CV1952828single nucleotide variantNM_004944.4(DNASE1L3):c.546+5G>Cnot provided [RCV002576085]uncertain significance35820099258200992Humanname
156389517CV1980008single nucleotide variantNM_004944.4(DNASE1L3):c.433+8C>Gnot provided [RCV002634861]likely benign35820476158204761Humanname
156299615CV2017250single nucleotide variantNM_004944.4(DNASE1L3):c.434-8T>Cnot provided [RCV002716000]likely benign35820111758201117Humanname
156021921CV2082849single nucleotide variantNM_004944.4(DNASE1L3):c.802-6T>Anot provided [RCV002884999]likely benign35819280958192809Humanname
156228209CV2140793single nucleotide variantNM_004944.4(DNASE1L3):c.142-2A>Gnot provided [RCV003007642]likely pathogenic35820830858208308Humanname
156017329CV2155217single nucleotide variantNM_004944.4(DNASE1L3):c.801+4A>Gnot provided [RCV003018058]uncertain significance35819333958193339Humanname
155949505CV2164830single nucleotide variantNM_004944.4(DNASE1L3):c.802-9T>Gnot provided [RCV003032355]likely benign35819281258192812Humanname
405143816CV2959002single nucleotide variantNM_004944.4(DNASE1L3):c.801+7T>Anot provided [RCV003673463]likely benign35819333658193336Humanname
404993749CV3176485single nucleotide variantNM_004944.4(DNASE1L3):c.141+2T>Cnot provided [RCV003881917]likely pathogenic35821076458210764Humanname
597733710CV3717817single nucleotide variantNM_004944.4(DNASE1L3):c.801+5G>AAutosomal systemic lupus erythematosus type 16 [RCV005037162]uncertain significance35819333858193338Human1name
597868644CV3783971single nucleotide variantNM_004944.4(DNASE1L3):c.802-2A>Gnot provided [RCV005122274]uncertain significance35819280558192805Humanname
15110786CV730237single nucleotide variantNM_004944.4(DNASE1L3):c.231-9G>CAutosomal systemic lupus erythematosus type 16 [RCV002501491]|not provided [RCV000894138]likely benign35820556958205569Human1name
15150293CV743955single nucleotide variantNM_004944.4(DNASE1L3):c.705-3C>TAutosomal systemic lupus erythematosus type 16 [RCV002479034]|not provided [RCV000901119]likely benign35819344258193442Human1name
15174382CV778993single nucleotide variantNM_004944.4(DNASE1L3):c.433+7C>Tnot provided [RCV000972706]likely benign35820476258204762Humanname
127319892CV1154544single nucleotide variantNM_004944.4(DNASE1L3):c.142-18G>Tnot provided [RCV001522366]|not specified [RCV003487406]benign35820832458208324Humanname
152175677CV1527060single nucleotide variantNM_004944.4(DNASE1L3):c.230+10G>Cnot provided [RCV002163813]likely benign35820820858208208Humanname
152106613CV1527401single nucleotide variantNM_004944.4(DNASE1L3):c.321-20C>Gnot provided [RCV002079692]likely benign35820490158204901Humanname
152077211CV1531286single nucleotide variantNM_004944.4(DNASE1L3):c.320+17C>AAutosomal systemic lupus erythematosus type 16 [RCV002500440]|not provided [RCV002210755]likely benign35820545458205454Human1name
152127514CV1534037single nucleotide variantNM_004944.4(DNASE1L3):c.141+14C>Gnot provided [RCV002136508]likely benign35821075258210752Humanname
152133482CV1547177single nucleotide variantNM_004944.4(DNASE1L3):c.801+10C>Anot provided [RCV002155841]likely benign35819333358193333Humanname
152060787CV1558269single nucleotide variantNM_004944.4(DNASE1L3):c.434-20G>Anot provided [RCV002128314]likely benign35820112958201129Humanname
152120956CV1576286single nucleotide variantNM_004944.4(DNASE1L3):c.704+18G>Tnot provided [RCV002198045]likely benign35819780358197803Humanname
152157183CV1586121single nucleotide variantNM_004944.4(DNASE1L3):c.433+15G>AAutosomal systemic lupus erythematosus type 16 [RCV002500278]|not provided [RCV002140301]likely benign35820475458204754Human1name
152146279CV1599950single nucleotide variantNM_004944.4(DNASE1L3):c.230+14G>Tnot provided [RCV002138847]likely benign35820820458208204Humanname
152152711CV1609863single nucleotide variantNM_004944.4(DNASE1L3):c.802-18T>Cnot provided [RCV002179701]likely benign35819282158192821Humanname
152122454CV1613393single nucleotide variantNM_004944.4(DNASE1L3):c.801+17G>CAutosomal systemic lupus erythematosus type 16 [RCV002481005]|not provided [RCV002154435]likely benign35819332658193326Human1name
152085803CV1621098single nucleotide variantNM_004944.4(DNASE1L3):c.141+13C>Tnot provided [RCV002193618]likely benign35821075358210753Humanname
152067880CV1660171single nucleotide variantNM_004944.4(DNASE1L3):c.546+12T>Cnot provided [RCV002147677]likely benign35820098558200985Humanname
152025944CV1666122single nucleotide variantNM_004944.4(DNASE1L3):c.230+15G>TAutosomal systemic lupus erythematosus type 16 [RCV005032146]|not provided [RCV002084634]likely benign|uncertain significance35820820358208203Human1name
156105171CV1992196single nucleotide variantNM_004944.4(DNASE1L3):c.802-20C>GAutosomal systemic lupus erythematosus type 16 [RCV005032362]|not provided [RCV002622359]uncertain significance35819282358192823Human1name
156213898CV1997295single nucleotide variantNM_004944.4(DNASE1L3):c.434-15T>Cnot provided [RCV002666949]likely benign35820112458201124Humanname
156120369CV2004153single nucleotide variantNM_004944.4(DNASE1L3):c.141+16G>Anot provided [RCV002662832]likely benign35821075058210750Humanname
156045003CV2026555duplicationNM_004944.4(DNASE1L3):c.230+11dupnot provided [RCV002736320]benign35820820658208207Humanname
156218206CV2104654single nucleotide variantNM_004944.4(DNASE1L3):c.802-15C>Gnot provided [RCV002932350]likely benign35819281858192818Humanname
156005457CV2126546single nucleotide variantNM_004944.4(DNASE1L3):c.801+14C>Tnot provided [RCV002975383]likely benign35819332958193329Humanname
156136856CV2186433single nucleotide variantNM_004944.4(DNASE1L3):c.705-12C>Tnot provided [RCV003056032]likely benign35819345158193451Humanname
404984119CV2849413single nucleotide variantNM_004944.4(DNASE1L3):c.434-75T>Cnot specified [RCV003489285]benign35820118458201184Humanname
404987977CV2849444single nucleotide variantNM_004944.4(DNASE1L3):c.801+42A>Gnot specified [RCV003490301]benign35819330158193301Humanname
405149109CV2959548single nucleotide variantNM_004944.4(DNASE1L3):c.321-12T>Cnot provided [RCV003673872]likely benign35820489358204893Humanname
405229692CV2977350single nucleotide variantNM_004944.4(DNASE1L3):c.434-19C>Anot provided [RCV003711304]likely benign35820112858201128Humanname
405214435CV3124446single nucleotide variantNM_004944.4(DNASE1L3):c.434-13T>Cnot provided [RCV003823808]likely benign35820112258201122Humanname
405200034CV3128801single nucleotide variantNM_004944.4(DNASE1L3):c.321-17C>Tnot provided [RCV003821844]likely benign35820489858204898Humanname
405200309CV3128905single nucleotide variantNM_004944.4(DNASE1L3):c.433+16G>Cnot provided [RCV003821948]likely benign35820475358204753Humanname
405240045CV3166084single nucleotide variantNM_004944.4(DNASE1L3):c.705-10C>Tnot provided [RCV003867096]likely benign35819344958193449Humanname
405249193CV3170019single nucleotide variantNM_004944.4(DNASE1L3):c.704+10C>Anot provided [RCV003869648]likely benign35819781158197811Humanname
597733787CV3727369single nucleotide variantNM_004944.4(DNASE1L3):c.230+19G>AAutosomal systemic lupus erythematosus type 16 [RCV005037172]uncertain significance35820819958208199Human1name
597846978CV3736679single nucleotide variantNM_004944.4(DNASE1L3):c.546+19G>Anot provided [RCV005065838]likely benign35820097858200978Humanname
597890948CV3739444single nucleotide variantNM_004944.4(DNASE1L3):c.142-15T>Cnot provided [RCV005070991]likely benign35820832158208321Humanname
597960177CV3746214deletionNM_004944.4(DNASE1L3):c.705-15delnot provided [RCV005081462]likely benign35819345458193454Humanname
597909592CV3749548single nucleotide variantNM_004944.4(DNASE1L3):c.231-20G>Anot provided [RCV005073396]likely benign35820558058205580Humanname
597923669CV3777894single nucleotide variantNM_004944.4(DNASE1L3):c.141+11T>Cnot provided [RCV005130618]likely benign35821075558210755Humanname
597882181CV3803095single nucleotide variantNM_004944.4(DNASE1L3):c.801+16T>Cnot provided [RCV005149946]likely benign35819332758193327Humanname
597968794CV3821253single nucleotide variantNM_004944.4(DNASE1L3):c.704+14C>Anot provided [RCV005165895]likely benign35819780758197807Humanname
597876376CV3859917microsatelliteNM_004944.4(DNASE1L3):c.320+4_320+7delnot provided [RCV005198325]likely pathogenic35820546458205467Humanname
152148977CV1642662deletionNM_004944.4(DNASE1L3):c.705-14_705-8delnot provided [RCV002179156]likely benign35819344758193453Humanname
156437694CV1947706single nucleotide variantNM_004944.4(DNASE1L3):c.15G>A (p.Leu5=)not provided [RCV003107236]likely benign35821089258210892Humanname
127290190CV1154545single nucleotide variantNM_004944.4(DNASE1L3):c.51C>T (p.Ser17=)not provided [RCV001509702]benign35821085658210856Humanname
151829331CV1372155single nucleotide variantNM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu)Autosomal systemic lupus erythematosus type 16 [RCV002479541]|not provided [RCV001955522]|not specified [RCV005232730]uncertain significance35821090658210906Human1name
151882194CV1396023single nucleotide variantNM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly)Autosomal systemic lupus erythematosus type 16 [RCV002486798]|not provided [RCV002037085]uncertain significance35821090058210900Human1name
151728859CV1444533single nucleotide variantNM_004944.4(DNASE1L3):c.4T>C (p.Ser2Pro)not provided [RCV001945834]uncertain significance35821090358210903Humanname
151715074CV1510689single nucleotide variantNM_004944.4(DNASE1L3):c.7C>T (p.Arg3Trp)Autosomal systemic lupus erythematosus type 16 [RCV005031945]|not provided [RCV001965068]uncertain significance35821090058210900Human1name
152158017CV1564311single nucleotide variantNM_004944.4(DNASE1L3):c.96G>A (p.Gly32=)not provided [RCV002140439]likely benign35821081158210811Humanname
405127192CV2939527single nucleotide variantNM_004944.4(DNASE1L3):c.39C>T (p.Leu13=)not provided [RCV003672002]likely benign35821086858210868Humanname
597733807CV3727374single nucleotide variantNM_004944.4(DNASE1L3):c.5C>T (p.Ser2Leu)Autosomal systemic lupus erythematosus type 16 [RCV005037175]uncertain significance35821090258210902Human1name
15201425CV748489single nucleotide variantNM_004944.4(DNASE1L3):c.81C>T (p.Asn27=)not provided [RCV000913135]likely benign35821082658210826Humanname
127309536CV1154542single nucleotide variantNM_004944.4(DNASE1L3):c.276G>C (p.Arg92=)DNASE1L3-related disorder [RCV003966109]|not provided [RCV001517917]benign35820551558205515Human1name , trait , alternate_id
127315898CV1154543single nucleotide variantNM_004944.4(DNASE1L3):c.252G>A (p.Thr84=)not provided [RCV001520205]|not specified [RCV003487390]benign35820553958205539Humanname
156072506CV2028987single nucleotide variantNM_004944.4(DNASE1L3):c.261T>C (p.Tyr87=)not provided [RCV002760363]likely benign35820553058205530Humanname
156171727CV2041661single nucleotide variantNM_004944.4(DNASE1L3):c.276G>A (p.Arg92=)not provided [RCV002741880]likely benign35820551558205515Humanname
156048429CV2068231single nucleotide variantNM_004944.4(DNASE1L3):c.168C>T (p.Leu56=)Inborn genetic diseases [RCV005333358]|not provided [RCV002846349]likely benign35820828058208280Human1name
156224296CV2115281single nucleotide variantNM_004944.4(DNASE1L3):c.267T>C (p.Ile89=)not provided [RCV002932579]likely benign|uncertain significance35820552458205524Humanname
405075144CV3034736single nucleotide variantNM_004944.4(DNASE1L3):c.168C>A (p.Leu56=)not provided [RCV003698553]likely benign35820828058208280Humanname
405210534CV3058976single nucleotide variantNM_004944.4(DNASE1L3):c.285A>G (p.Arg95=)not provided [RCV003731940]likely benign35820550658205506Humanname
405260647CV3204252single nucleotide variantNM_004944.4(DNASE1L3):c.207C>T (p.Pro69=)DNASE1L3-related disorder [RCV003944100]likely benign35820824158208241Humanname , trait , alternate_id
597649278CV3663075single nucleotide variantNM_004944.4(DNASE1L3):c.17C>T (p.Ala6Val)Inborn genetic diseases [RCV004974351]uncertain significance35821089058210890Human1name
15115213CV748487single nucleotide variantNM_004944.4(DNASE1L3):c.211C>T (p.Leu71=)Autosomal systemic lupus erythematosus type 16 [RCV002479065]|not provided [RCV000917416]benign|likely benign35820823758208237Human1name
15154061CV748488single nucleotide variantNM_004944.4(DNASE1L3):c.153C>T (p.Arg51=)not provided [RCV000924184]likely benign35820829558208295Humanname
151847056CV1339144single nucleotide variantNM_004944.4(DNASE1L3):c.432T>C (p.Thr144=)not provided [RCV001995473]uncertain significance35820477058204770Humanname
151761826CV1358310single nucleotide variantNM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys)Autosomal systemic lupus erythematosus type 16 [RCV002484489]|Inborn genetic diseases [RCV004975864]|not provided [RCV001928613]uncertain significance35821081058210810Human2name
151774967CV1450297single nucleotide variantNM_004944.4(DNASE1L3):c.63G>A (p.Met21Ile)not provided [RCV001915344]uncertain significance35821084458210844Humanname
151828758CV1468632single nucleotide variantNM_004944.4(DNASE1L3):c.35T>A (p.Leu12His)not provided [RCV002030591]uncertain significance35821087258210872Humanname
151714171CV1469600single nucleotide variantNM_004944.4(DNASE1L3):c.61A>G (p.Met21Val)Inborn genetic diseases [RCV002552774]|not provided [RCV001889988]uncertain significance35821084658210846Human1name
151835389CV1489260single nucleotide variantNM_004944.4(DNASE1L3):c.52G>A (p.Ala18Thr)Autosomal systemic lupus erythematosus type 16 [RCV005038393]|Inborn genetic diseases [RCV004039841]|not provided [RCV001902236]uncertain significance35821085558210855Human2name
151888784CV1504440single nucleotide variantNM_004944.4(DNASE1L3):c.519G>A (p.Thr173=)not provided [RCV001963291]likely benign35820102458201024Humanname
151870289CV1515594single nucleotide variantNM_004944.4(DNASE1L3):c.651C>A (p.Ile217=)not provided [RCV001981207]likely benign|uncertain significance35819787458197874Humanname
152036800CV1521770single nucleotide variantNM_004944.4(DNASE1L3):c.402C>G (p.Pro134=)not provided [RCV002187638]likely benign35820480058204800Humanname
152150056CV1545504single nucleotide variantNM_004944.4(DNASE1L3):c.375A>G (p.Gly125=)not provided [RCV002121614]likely benign35820482758204827Humanname
152113907CV1581953single nucleotide variantNM_004944.4(DNASE1L3):c.684C>T (p.Ser228=)not provided [RCV002097212]likely benign35819784158197841Humanname
152155863CV1585876single nucleotide variantNM_004944.4(DNASE1L3):c.360T>C (p.His120=)Autosomal systemic lupus erythematosus type 16 [RCV002500277]|not provided [RCV002140158]likely benign35820484258204842Human1name
152119938CV1593722single nucleotide variantNM_004944.4(DNASE1L3):c.516C>T (p.Tyr172=)not provided [RCV002098006]likely benign35820102758201027Humanname
152100045CV1606659single nucleotide variantNM_004944.4(DNASE1L3):c.483C>G (p.Ser161=)not provided [RCV002195431]likely benign35820106058201060Humanname
152094609CV1617466single nucleotide variantNM_004944.4(DNASE1L3):c.636G>A (p.Arg212=)not provided [RCV002114538]likely benign35819788958197889Humanname
152093975CV1648787single nucleotide variantNM_004944.4(DNASE1L3):c.646C>T (p.Leu216=)not provided [RCV002078087]likely benign35819787958197879Humanname
152058944CV1652115single nucleotide variantNM_004944.4(DNASE1L3):c.588C>T (p.Tyr196=)not provided [RCV002190292]likely benign35819793758197937Humanname
155693470CV1775314single nucleotide variantNM_004944.4(DNASE1L3):c.77T>C (p.Phe26Ser)not provided [RCV002299444]uncertain significance35821083058210830Humanname
156352746CV1893382single nucleotide variantNM_004944.4(DNASE1L3):c.672G>A (p.Thr224=)not provided [RCV003091107]likely benign35819785358197853Humanname
156357961CV1897686single nucleotide variantNM_004944.4(DNASE1L3):c.651C>T (p.Ile217=)not provided [RCV002602300]likely benign35819787458197874Humanname
156388092CV1989853single nucleotide variantNM_004944.4(DNASE1L3):c.426C>T (p.Pro142=)not provided [RCV002604436]likely benign35820477658204776Humanname
156392473CV2006347single nucleotide variantNM_004944.4(DNASE1L3):c.447C>T (p.Phe149=)not provided [RCV002654514]likely benign35820109658201096Humanname
156207281CV2007908single nucleotide variantNM_004944.4(DNASE1L3):c.564T>C (p.Gly188=)not provided [RCV002700494]likely benign35819796158197961Humanname
156013738CV2009009single nucleotide variantNM_004944.4(DNASE1L3):c.729C>T (p.Ile243=)not provided [RCV002690654]likely benign35819341558193415Humanname
156120161CV2039425single nucleotide variantNM_004944.4(DNASE1L3):c.522C>T (p.Asp174=)DNASE1L3-related disorder [RCV003916533]|not provided [RCV002800193]likely benign35820102158201021Human1name , trait , alternate_id
156230173CV2048643single nucleotide variantNM_004944.4(DNASE1L3):c.576C>T (p.Ala192=)not provided [RCV002790967]likely benign35819794958197949Humanname
155973021CV2079331single nucleotide variantNM_004944.4(DNASE1L3):c.429C>T (p.His143=)not provided [RCV002881574]likely benign35820477358204773Humanname
156163384CV2096985single nucleotide variantNM_004944.4(DNASE1L3):c.502T>C (p.Leu168=)not provided [RCV002872744]likely benign35820104158201041Humanname
156258921CV2098860single nucleotide variantNM_004944.4(DNASE1L3):c.41C>A (p.Ser14Tyr)Autosomal systemic lupus erythematosus type 16 [RCV005028006]|not provided [RCV002895509]uncertain significance35821086658210866Human1name
156143520CV2106214single nucleotide variantNM_004944.4(DNASE1L3):c.71G>C (p.Cys24Ser)not provided [RCV002928645]uncertain significance35821083658210836Humanname
155910873CV2141605single nucleotide variantNM_004944.4(DNASE1L3):c.65G>A (p.Arg22Lys)Autosomal systemic lupus erythematosus type 16 [RCV005028086]|not provided [RCV002968041]uncertain significance35821084258210842Human1name
156124750CV2147437single nucleotide variantNM_004944.4(DNASE1L3):c.699T>C (p.Tyr233=)not provided [RCV003021940]likely benign35819782658197826Humanname
156129735CV2151846single nucleotide variantNM_004944.4(DNASE1L3):c.465C>T (p.His155=)not provided [RCV003003311]likely benign35820107858201078Humanname
156340397CV2179765single nucleotide variantNM_004944.4(DNASE1L3):c.62T>G (p.Met21Arg)not provided [RCV003030252]uncertain significance35821084558210845Humanname
401770098CV2719035single nucleotide variantNM_004944.4(DNASE1L3):c.62T>C (p.Met21Thr)Inborn genetic diseases [RCV003303882]uncertain significance35821084558210845Human1name
405225348CV2882007single nucleotide variantNM_004944.4(DNASE1L3):c.900A>G (p.Thr300=)not provided [RCV003554560]likely benign35819270558192705Humanname
405160749CV2899319single nucleotide variantNM_004944.4(DNASE1L3):c.384T>C (p.Asp128=)not provided [RCV003562375]likely benign35820481858204818Humanname
405204062CV2915397single nucleotide variantNM_004944.4(DNASE1L3):c.519G>T (p.Thr173=)not provided [RCV003566273]likely benign35820102458201024Humanname
405126286CV2958234single nucleotide variantNM_004944.4(DNASE1L3):c.591C>T (p.Val197=)not provided [RCV003667809]likely benign35819793458197934Humanname
405119295CV2993816single nucleotide variantNM_004944.4(DNASE1L3):c.525G>A (p.Val175=)not provided [RCV003723707]likely benign35820101858201018Humanname
405093017CV3022568single nucleotide variantNM_004944.4(DNASE1L3):c.381A>G (p.Ala127=)not provided [RCV003699868]likely benign35820482158204821Humanname
405148140CV3024198single nucleotide variantNM_004944.4(DNASE1L3):c.852A>G (p.Ser284=)not provided [RCV003703091]likely benign35819275358192753Humanname
405202999CV3116754single nucleotide variantNM_004944.4(DNASE1L3):c.654G>A (p.Gly218=)not provided [RCV003822238]likely benign35819787158197871Humanname
405112313CV3133587single nucleotide variantNM_004944.4(DNASE1L3):c.813C>T (p.Val271=)not provided [RCV003836380]likely benign35819279258192792Humanname
405085498CV3137722single nucleotide variantNM_004944.4(DNASE1L3):c.483C>T (p.Ser161=)not provided [RCV003834431]likely benign35820106058201060Humanname
405176508CV3152292single nucleotide variantNM_004944.4(DNASE1L3):c.711G>A (p.Val237=)not provided [RCV003858247]likely benign35819343358193433Humanname
597861997CV3745146single nucleotide variantNM_004944.4(DNASE1L3):c.426C>G (p.Pro142=)not provided [RCV005067502]likely benign35820477658204776Humanname
597969836CV3753498single nucleotide variantNM_004944.4(DNASE1L3):c.456C>T (p.Ile152=)not provided [RCV005083983]likely benign35820108758201087Humanname
597942290CV3757503single nucleotide variantNM_004944.4(DNASE1L3):c.477G>A (p.Glu159=)not provided [RCV005077689]likely benign35820106658201066Humanname
597940679CV3772791single nucleotide variantNM_004944.4(DNASE1L3):c.612C>T (p.Asn204=)not provided [RCV005118421]likely benign35819791358197913Humanname
597931548CV3780376single nucleotide variantNM_004944.4(DNASE1L3):c.807G>C (p.Leu269=)not provided [RCV005116696]likely benign35819279858192798Humanname
597939117CV3788426single nucleotide variantNM_004944.4(DNASE1L3):c.879T>C (p.Ser293=)not provided [RCV005133101]likely benign35819272658192726Humanname
597903695CV3846019single nucleotide variantNM_004944.4(DNASE1L3):c.579C>T (p.Gly193=)not provided [RCV005181641]likely benign35819794658197946Humanname
597966863CV3855657single nucleotide variantNM_004944.4(DNASE1L3):c.471C>T (p.Thr157=)not provided [RCV005194637]likely benign35820107258201072Humanname
15187849CV698264single nucleotide variantNM_004944.4(DNASE1L3):c.543G>A (p.Ala181=)Autosomal systemic lupus erythematosus type 16 [RCV002505424]|not provided [RCV000953709]|not specified [RCV005236478]benign|likely benign35820100058201000Human1name
15111539CV709004single nucleotide variantNM_004944.4(DNASE1L3):c.444C>T (p.Asp148=)Autosomal systemic lupus erythematosus type 16 [RCV002503006]|not provided [RCV000961128]likely benign35820109958201099Human1name
15106858CV720612single nucleotide variantNM_004944.4(DNASE1L3):c.777A>G (p.Lys259=)Autosomal systemic lupus erythematosus type 16 [RCV002501482]|not provided [RCV000893363]likely benign35819336758193367Human1name
15181035CV734256single nucleotide variantNM_004944.4(DNASE1L3):c.501G>A (p.Glu167=)Autosomal systemic lupus erythematosus type 16 [RCV002495486]|not provided [RCV000907494]|not specified [RCV005408066]benign|likely benign35820104258201042Human1name
15114258CV748485single nucleotide variantNM_004944.4(DNASE1L3):c.567C>T (p.Asp189=)not provided [RCV000917244]likely benign35819795858197958Humanname
15108579CV748486single nucleotide variantNM_004944.4(DNASE1L3):c.519G>C (p.Thr173=)Autosomal systemic lupus erythematosus type 16 [RCV002495519]|not provided [RCV000916169]likely benign35820102458201024Human1name
127293152CV1154541single nucleotide variantNM_004944.4(DNASE1L3):c.288C>A (p.Asn96Lys)not provided [RCV001511217]benign35820550358205503Humanname
127286056CV1161644single nucleotide variantNM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser)Autosomal systemic lupus erythematosus type 16 [RCV001526442]uncertain significance35820826958208269Human1name
151854140CV1376459single nucleotide variantNM_004944.4(DNASE1L3):c.250A>T (p.Thr84Ser)not provided [RCV001996328]uncertain significance35820554158205541Humanname
151882622CV1383857deletionNM_004944.4(DNASE1L3):c.495del (p.Ile165fs)not provided [RCV001886765]pathogenic35820104858201048Humanname
151733911CV1392892single nucleotide variantNM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp)Autosomal systemic lupus erythematosus type 16 [RCV002491971]|not provided [RCV001967389]|not specified [RCV005238082]uncertain significance35820551758205517Human1name
151742758CV1405086single nucleotide variantNM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys)Autosomal systemic lupus erythematosus type 16 [RCV002478162]|not provided [RCV001947262]uncertain significance35820829758208297Human1name
151887456CV1426866single nucleotide variantNM_004944.4(DNASE1L3):c.251C>T (p.Thr84Met)Inborn genetic diseases [RCV004976149]|not provided [RCV002038193]uncertain significance35820554058205540Human1name
151850081CV1427888single nucleotide variantNM_004944.4(DNASE1L3):c.142G>A (p.Val48Ile)Inborn genetic diseases [RCV002554299]|not provided [RCV001922657]likely benign|uncertain significance35820830658208306Human1name
151746852CV1428380single nucleotide variantNM_004944.4(DNASE1L3):c.152G>A (p.Arg51His)Autosomal systemic lupus erythematosus type 16 [RCV002484590]|not provided [RCV001927070]uncertain significance35820829658208296Human1name
151779582CV1467643single nucleotide variantNM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn)Autosomal systemic lupus erythematosus type 16 [RCV002491978]|not provided [RCV001971957]uncertain significance35821079558210795Human1name
151757850CV1475267single nucleotide variantNM_004944.4(DNASE1L3):c.112G>C (p.Asp38His)Autosomal systemic lupus erythematosus type 16 [RCV002497825]|not provided [RCV001969847]uncertain significance35821079558210795Human1name
151728982CV1483054single nucleotide variantNM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln)Autosomal systemic lupus erythematosus type 16 [RCV002482625]|not provided [RCV001892045]uncertain significance35820551658205516Human1name
151787926CV1510108single nucleotide variantNM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu)Autosomal systemic lupus erythematosus type 16 [RCV002478368]|not provided [RCV001916523]uncertain significance35821079258210792Human1name
156362153CV1934689single nucleotide variantNM_004944.4(DNASE1L3):c.136G>A (p.Val46Met)not provided [RCV002651711]uncertain significance35821077158210771Humanname
10048515CV193562single nucleotide variantNM_004944.4(DNASE1L3):c.244G>C (p.Gly82Arg)not provided [RCV000889464]|not specified [RCV000177220]benign35820554758205547Humanname
156242602CV1981514single nucleotide variantNM_004944.4(DNASE1L3):c.164T>C (p.Ile55Thr)Autosomal systemic lupus erythematosus type 16 [RCV005032360]|not provided [RCV002645626]uncertain significance35820828458208284Human1name
156120068CV2013694single nucleotide variantNM_004944.4(DNASE1L3):c.260A>G (p.Tyr87Cys)not provided [RCV002740162]uncertain significance35820553158205531Humanname
156116535CV2115733deletionNM_004944.4(DNASE1L3):c.317del (p.Tyr106fs)Autosomal systemic lupus erythematosus type 16 [RCV005034492]|not provided [RCV002927642]pathogenic|likely pathogenic35820547458205474Human1name
156225370CV2168629deletionNM_004944.4(DNASE1L3):c.596del (p.Lys199fs)not provided [RCV003042879]pathogenic35819792958197929Humanname
156230860CV2183937single nucleotide variantNM_004944.4(DNASE1L3):c.152G>T (p.Arg51Leu)not provided [RCV003043080]uncertain significance35820829658208296Humanname
401913395CV2797277single nucleotide variantNM_004944.4(DNASE1L3):c.172A>T (p.Met58Leu)DNASE1L3-related disorder [RCV003427843]uncertain significance35820827658208276Humanname , trait , alternate_id
405216286CV3055634single nucleotide variantNM_004944.4(DNASE1L3):c.155G>A (p.Cys52Tyr)not provided [RCV003732697]uncertain significance35820829358208293Humanname
12849159CV364236single nucleotide variantNM_004944.4(DNASE1L3):c.217G>A (p.Glu73Lys)not provided [RCV000425061]likely benign|conflicting interpretations of pathogenicity35820823158208231Humanname
597649284CV3663076single nucleotide variantNM_004944.4(DNASE1L3):c.293A>G (p.Tyr98Cys)Inborn genetic diseases [RCV004974352]uncertain significance35820549858205498Human1name
597733703CV3717816deletionNM_004944.4(DNASE1L3):c.805del (p.Leu269fs)Autosomal systemic lupus erythematosus type 16 [RCV005037161]likely pathogenic35819280058192800Human1name
597733773CV3727367single nucleotide variantNM_004944.4(DNASE1L3):c.245G>C (p.Gly82Ala)Autosomal systemic lupus erythematosus type 16 [RCV005037170]uncertain significance35820554658205546Human1name
597733780CV3727368single nucleotide variantNM_004944.4(DNASE1L3):c.232A>G (p.Asn78Asp)Autosomal systemic lupus erythematosus type 16 [RCV005037171]uncertain significance35820555958205559Human1name
597639451CV3727371single nucleotide variantNM_004944.4(DNASE1L3):c.145A>G (p.Ile49Val)Autosomal systemic lupus erythematosus type 16 [RCV005024801]|Inborn genetic diseases [RCV005325953]uncertain significance35820830358208303Human2name
597639457CV3727372single nucleotide variantNM_004944.4(DNASE1L3):c.122C>T (p.Ala41Val)Autosomal systemic lupus erythematosus type 16 [RCV005024802]uncertain significance35821078558210785Human1name
8568225CV39212deletionNM_004944.4(DNASE1L3):c.643del (p.Trp215fs)Autosomal systemic lupus erythematosus type 16 [RCV000023182]|not provided [RCV003556073]pathogenic35819788258197882Human1name
13832091CV582583single nucleotide variantNM_004944.4(DNASE1L3):c.146T>G (p.Ile49Ser)not provided [RCV000722774]uncertain significance35820830258208302Humanname
14703623CV631767duplicationNM_004944.4(DNASE1L3):c.441dup (p.Asp148fs)Autosomal systemic lupus erythematosus type 16 [RCV005036138]|not provided [RCV000794531]pathogenic|likely pathogenic35820110158201102Human1name
126744973CV1025478single nucleotide variantNM_004944.4(DNASE1L3):c.385G>T (p.Val129Leu)not provided [RCV001351347]uncertain significance35820481758204817Humanname
127326765CV1135226single nucleotide variantNM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys)not provided [RCV001486136]likely benign35819790958197909Human27name
127326765CV1135226single nucleotide variantNM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys)not provided [RCV001486136]likely benign35819790958197910Human27name
150551036CV1292427single nucleotide variantNM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala)Autosomal systemic lupus erythematosus type 16 [RCV003152769]|not provided [RCV001754034]uncertain significance35819796258197962Human1name
151662788CV1330687single nucleotide variantNM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter)Autosomal systemic lupus erythematosus type 16 [RCV001824250]likely pathogenic35820100658201006Human1name
151800042CV1343935single nucleotide variantNM_004944.4(DNASE1L3):c.918G>T (p.Ter306Tyr)not provided [RCV002028004]uncertain significance35819268758192687Humanname
151845873CV1346282single nucleotide variantNM_004944.4(DNASE1L3):c.414G>C (p.Trp138Cys)Autosomal systemic lupus erythematosus type 16 [RCV005031950]|not provided [RCV001936699]uncertain significance35820478858204788Human1name
151801041CV1354134single nucleotide variantNM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr)Autosomal systemic lupus erythematosus type 16 [RCV002506890]|not provided [RCV001867128]uncertain significance35819792458197924Human1name
151880629CV1360073single nucleotide variantNM_004944.4(DNASE1L3):c.355T>C (p.Tyr119His)Autosomal systemic lupus erythematosus type 16 [RCV005032142]|not provided [RCV002036821]uncertain significance35820484758204847Human1name
151815056CV1360700single nucleotide variantNM_004944.4(DNASE1L3):c.815G>C (p.Ser272Thr)not provided [RCV001878655]uncertain significance35819279058192790Humanname
151772316CV1367067single nucleotide variantNM_004944.4(DNASE1L3):c.800A>G (p.Glu267Gly)not provided [RCV001988359]uncertain significance35819334458193344Humanname
151882063CV1371126single nucleotide variantNM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile)Autosomal systemic lupus erythematosus type 16 [RCV002478258]|not provided [RCV001886654]uncertain significance35819341458193414Human1name
151811442CV1371388single nucleotide variantNM_004944.4(DNASE1L3):c.798G>C (p.Glu266Asp)not provided [RCV001933241]uncertain significance35819334658193346Humanname
151852884CV1406733single nucleotide variantNM_004944.4(DNASE1L3):c.689A>G (p.Asn230Ser)not provided [RCV002033409]uncertain significance35819783658197836Humanname
151823158CV1415235single nucleotide variantNM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala)Autosomal systemic lupus erythematosus type 16 [RCV002484579]|Inborn genetic diseases [RCV002560446]|not provided [RCV001954964]uncertain significance35820110658201106Human2name
151847213CV1439632single nucleotide variantNM_004944.4(DNASE1L3):c.782A>C (p.Tyr261Ser)not provided [RCV002016091]uncertain significance35819336258193362Humanname
151805524CV1440609single nucleotide variantNM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu)Autosomal systemic lupus erythematosus type 16 [RCV002490192]|Inborn genetic diseases [RCV004041748]|not provided [RCV001932703]uncertain significance35819343558193435Human2name
151817877CV1441260single nucleotide variantNM_004944.4(DNASE1L3):c.400C>T (p.Pro134Ser)Inborn genetic diseases [RCV002560570]|not provided [RCV001933854]uncertain significance35820480258204802Human1name
151818380CV1446100single nucleotide variantNM_004944.4(DNASE1L3):c.359A>G (p.His120Arg)Autosomal systemic lupus erythematosus type 16 [RCV002492159]|not provided [RCV001975486]uncertain significance35820484358204843Human1name
151764972CV1447716single nucleotide variantNM_004944.4(DNASE1L3):c.361G>A (p.Asp121Asn)not provided [RCV001895762]uncertain significance35820484158204841Humanname
151740671CV1455362single nucleotide variantNM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly)Autosomal systemic lupus erythematosus type 16 [RCV002492240]|not provided [RCV002005790]uncertain significance35819280258192802Human1name
151850516CV1464937single nucleotide variantNM_004944.4(DNASE1L3):c.376G>T (p.Asp126Tyr)not provided [RCV001995898]uncertain significance35820482658204826Humanname
151826936CV1471837single nucleotide variantNM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met)Autosomal systemic lupus erythematosus type 16 [RCV002492250]|not provided [RCV002030420]uncertain significance35819785458197854Human1name
151877987CV1475860single nucleotide variantNM_004944.4(DNASE1L3):c.715A>G (p.Arg239Gly)not provided [RCV002019777]uncertain significance35819342958193429Humanname
151787628CV1479121single nucleotide variantNM_004944.4(DNASE1L3):c.415T>C (p.Phe139Leu)not provided [RCV002046784]uncertain significance35820478758204787Humanname
151752875CV1480031single nucleotide variantNM_004944.4(DNASE1L3):c.448G>A (p.Val150Met)Autosomal systemic lupus erythematosus type 16 [RCV002484404]|not provided [RCV001927702]uncertain significance35820109558201095Human1name
151766753CV1492765single nucleotide variantNM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu)Autosomal systemic lupus erythematosus type 16 [RCV002506944]|not provided [RCV001914585]uncertain significance35820481858204818Human1name
151845015CV1496544single nucleotide variantNM_004944.4(DNASE1L3):c.323A>C (p.Glu108Ala)not provided [RCV001921998]uncertain significance35820487958204879Humanname
151756268CV1498991single nucleotide variantNM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr)Autosomal systemic lupus erythematosus type 16 [RCV002507814]|Inborn genetic diseases [RCV002548847]|not provided [RCV002023875]uncertain significance35820477858204778Human2name
151881243CV1499807single nucleotide variantNM_004944.4(DNASE1L3):c.392C>A (p.Ser131Tyr)Autosomal systemic lupus erythematosus type 16 [RCV005038427]|Inborn genetic diseases [RCV004616827]|not provided [RCV001886512]uncertain significance35820481058204810Human2name
151800357CV1509477single nucleotide variantNM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys)Autosomal systemic lupus erythematosus type 16 [RCV002489964]|not provided [RCV001867070]uncertain significance35819275158192751Human1name
151732787CV1512337single nucleotide variantNM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met)Autosomal systemic lupus erythematosus type 16 [RCV002479799]|not provided [RCV002021477]uncertain significance35819341558193415Human1name
151766535CV1516305single nucleotide variantNM_004944.4(DNASE1L3):c.350A>T (p.Tyr117Phe)not provided [RCV002024944]uncertain significance35820485258204852Humanname
152105435CV1622901single nucleotide variantNM_004944.4(DNASE1L3):c.451A>G (p.Ile151Val)DNASE1L3-related disorder [RCV003950967]|not provided [RCV002214742]likely benign35820109258201092Human1name , trait , alternate_id
155268088CV1701572single nucleotide variantNM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)Autosomal systemic lupus erythematosus type 16 [RCV002283799]uncertain significance35820548458205484Human1name
156202051CV1916838single nucleotide variantNM_004944.4(DNASE1L3):c.910C>T (p.Arg304Cys)Autosomal systemic lupus erythematosus type 16 [RCV005034743]|not provided [RCV002595740]uncertain significance35819269558192695Human1name
156036101CV1918254single nucleotide variantNM_004944.4(DNASE1L3):c.399G>C (p.Glu133Asp)not provided [RCV002620058]uncertain significance35820480358204803Humanname
156162784CV1934688single nucleotide variantNM_004944.4(DNASE1L3):c.466A>C (p.Thr156Pro)Autosomal systemic lupus erythematosus type 16 [RCV005034824]|not provided [RCV002664313]uncertain significance35820107758201077Human1name
156333140CV1966656single nucleotide variantNM_004944.4(DNASE1L3):c.380C>A (p.Ala127Glu)not provided [RCV002600902]uncertain significance35820482258204822Humanname
155901750CV1975693single nucleotide variantNM_004944.4(DNASE1L3):c.407T>C (p.Val136Ala)not provided [RCV002613431]uncertain significance35820479558204795Humanname
156320993CV1976059single nucleotide variantNM_004944.4(DNASE1L3):c.371A>C (p.Asp124Ala)not provided [RCV002600228]uncertain significance35820483158204831Humanname
156389962CV1980149single nucleotide variantNM_004944.4(DNASE1L3):c.722A>G (p.Gln241Arg)not provided [RCV002634894]uncertain significance35819342258193422Humanname
156085997CV1987619single nucleotide variantNM_004944.4(DNASE1L3):c.617G>A (p.Arg206His)not provided [RCV002621699]uncertain significance35819790858197908Humanname
155940642CV2022179single nucleotide variantNM_004944.4(DNASE1L3):c.903G>C (p.Lys301Asn)not provided [RCV002730091]uncertain significance35819270258192702Humanname
156115288CV2035472single nucleotide variantNM_004944.4(DNASE1L3):c.533G>T (p.Arg178Leu)not provided [RCV002785565]uncertain significance35820101058201010Humanname
156257441CV2041323single nucleotide variantNM_004944.4(DNASE1L3):c.362A>T (p.Asp121Val)not provided [RCV002806214]uncertain significance35820484058204840Humanname
156282870CV2050041single nucleotide variantNM_004944.4(DNASE1L3):c.768C>A (p.Asp256Glu)not provided [RCV002807049]uncertain significance35819337658193376Humanname
155994987CV2060101single nucleotide variantNM_004944.4(DNASE1L3):c.745C>A (p.Pro249Thr)not provided [RCV002819380]uncertain significance35819339958193399Humanname
155958958CV2062833single nucleotide variantNM_004944.4(DNASE1L3):c.522C>G (p.Asp174Glu)not provided [RCV002816673]uncertain significance35820102158201021Humanname
156169556CV2133510single nucleotide variantNM_004944.4(DNASE1L3):c.433G>A (p.Ala145Thr)not provided [RCV003005344]uncertain significance35820476958204769Humanname
156175270CV2144716single nucleotide variantNM_004944.4(DNASE1L3):c.504G>C (p.Leu168Phe)not provided [RCV003005525]uncertain significance35820103958201039Humanname
156183496CV2151935single nucleotide variantNM_004944.4(DNASE1L3):c.580T>G (p.Cys194Gly)not provided [RCV003005782]uncertain significance35819794558197945Humanname
156132163CV2181282single nucleotide variantNM_004944.4(DNASE1L3):c.596A>G (p.Lys199Arg)not provided [RCV003039739]uncertain significance35819792958197929Humanname
156097242CV2183643single nucleotide variantNM_004944.4(DNASE1L3):c.661G>C (p.Glu221Gln)not provided [RCV003054587]uncertain significance35819786458197864Humanname
156092059CV2300110single nucleotide variantNM_004944.4(DNASE1L3):c.631C>G (p.Pro211Ala)Inborn genetic diseases [RCV002869888]uncertain significance35819789458197894Human1name
401891658CV2779280single nucleotide variantNM_004944.4(DNASE1L3):c.876A>T (p.Lys292Asn)Inborn genetic diseases [RCV003355020]uncertain significance35819272958192729Human1name
405069327CV2876331single nucleotide variantNM_004944.4(DNASE1L3):c.496G>C (p.Asp166His)not provided [RCV003548433]uncertain significance35820104758201047Humanname
402498566CV2946763single nucleotide variantNM_004944.4(DNASE1L3):c.860T>C (p.Phe287Ser)not provided [RCV003661371]uncertain significance35819274558192745Humanname
405220477CV2969732single nucleotide variantNM_004944.4(DNASE1L3):c.541G>A (p.Ala181Thr)not provided [RCV003680604]uncertain significance35820100258201002Humanname
405226360CV3169405single nucleotide variantNM_004944.4(DNASE1L3):c.584G>A (p.Ser195Asn)not provided [RCV003864429]likely benign35819794158197941Humanname
405747852CV3240889single nucleotide variantNM_004944.4(DNASE1L3):c.424C>G (p.Pro142Ala)Inborn genetic diseases [RCV004381492]uncertain significance35820477858204778Human1name
407424632CV3407336single nucleotide variantNM_004944.4(DNASE1L3):c.572A>G (p.Asn191Ser)Autosomal systemic lupus erythematosus type 16 [RCV004584153]pathogenic|likely pathogenic35819795358197953Human1name
407505080CV3437598single nucleotide variantNM_004944.4(DNASE1L3):c.906C>G (p.Ser302Arg)Autosomal systemic lupus erythematosus type 16 [RCV005038744]|Inborn genetic diseases [RCV004624242]uncertain significance35819269958192699Human2name
407505083CV3437599single nucleotide variantNM_004944.4(DNASE1L3):c.305A>C (p.Tyr102Ser)Inborn genetic diseases [RCV004624243]uncertain significance35820548658205486Human1name
597733697CV3717815single nucleotide variantNM_004944.4(DNASE1L3):c.817G>A (p.Asp273Asn)Autosomal systemic lupus erythematosus type 16 [RCV005037160]uncertain significance35819278858192788Human1name
597733720CV3717818single nucleotide variantNM_004944.4(DNASE1L3):c.781T>A (p.Tyr261Asn)Autosomal systemic lupus erythematosus type 16 [RCV005037163]uncertain significance35819336358193363Human1name
597733736CV3717819single nucleotide variantNM_004944.4(DNASE1L3):c.635G>A (p.Arg212Lys)Autosomal systemic lupus erythematosus type 16 [RCV005037165]uncertain significance35819789058197890Human1name
597733745CV3717820single nucleotide variantNM_004944.4(DNASE1L3):c.604T>G (p.Trp202Gly)Autosomal systemic lupus erythematosus type 16 [RCV005037166]uncertain significance35819792158197921Human1name
597733752CV3717821single nucleotide variantNM_004944.4(DNASE1L3):c.522C>A (p.Asp174Glu)Autosomal systemic lupus erythematosus type 16 [RCV005037167]uncertain significance35820102158201021Human1name
597733758CV3727365single nucleotide variantNM_004944.4(DNASE1L3):c.404T>G (p.Phe135Cys)Autosomal systemic lupus erythematosus type 16 [RCV005037168]uncertain significance35820479858204798Human1name
597875194CV3743798single nucleotide variantNM_004944.4(DNASE1L3):c.403T>C (p.Phe135Leu)not provided [RCV005069204]uncertain significance35820479958204799Humanname
597911246CV3826108single nucleotide variantNM_004944.4(DNASE1L3):c.511G>C (p.Val171Leu)not provided [RCV005182844]uncertain significance35820103258201032Humanname
598164148CV3953612single nucleotide variantNM_004944.4(DNASE1L3):c.484G>A (p.Val162Ile)Inborn genetic diseases [RCV005329479]uncertain significance35820105958201059Human1name
598164152CV3953613single nucleotide variantNM_004944.4(DNASE1L3):c.758G>A (p.Ser253Asn)Inborn genetic diseases [RCV005329480]uncertain significance35819338658193386Human1name
598164165CV3953615single nucleotide variantNM_004944.4(DNASE1L3):c.745C>G (p.Pro249Ala)Inborn genetic diseases [RCV005329482]uncertain significance35819339958193399Human1name
15181030CV734255single nucleotide variantNM_004944.4(DNASE1L3):c.782A>G (p.Tyr261Cys)not provided [RCV000907493]|not specified [RCV005408065]likely benign35819336258193362Humanname
15181040CV734257single nucleotide variantNM_004944.4(DNASE1L3):c.495C>G (p.Ile165Met)not provided [RCV000907495]|not specified [RCV005408067]likely benign35820104858201048Humanname
126725803CV989774single nucleotide variantNM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser)Autosomal systemic lupus erythematosus type 16 [RCV002493594]|not provided [RCV001302687]uncertain significance35819794858197948Human1name
126733041CV989775single nucleotide variantNM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His)Autosomal systemic lupus erythematosus type 16 [RCV002486110]|not provided [RCV001294669]uncertain significance35820548758205487Human1name
127286054CV1161643microsatelliteNM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)Autosomal systemic lupus erythematosus type 16 [RCV001526441]|DNASE1L3-related disorder [RCV003416385]|not provided [RCV001873706]pathogenic|likely pathogenic35820550058205501Humanname , trait , alternate_id
597733800CV3727370deletionNM_004944.4(DNASE1L3):c.159_172del (p.Ile54fs)Autosomal systemic lupus erythematosus type 16 [RCV005037174]|not provided [RCV005112832]pathogenic|likely pathogenic35820827658208289Human1name
151718094CV1469257deletionNM_004944.4(DNASE1L3):c.754_757del (p.Asn252fs)not provided [RCV002039642]uncertain significance35819338758193390Humanname