ClinVar Miner

List of variants studied for Finnish congenital nephrotic syndrome by Counsyl

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Total variants: 117
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HGVS dbSNP
NM_004646.3(NPHS1):c.1013-1G>C rs1057517413
NM_004646.3(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.3(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.3(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789
NM_004646.3(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.3(NPHS1):c.1170+7C>T rs906888001
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1316-2A>G rs1555763090
NM_004646.3(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1369del (p.Ala457fs) rs1057516918
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1536_1541GCTGGT[1] (p.513_514LV[1]) rs1555762721
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.3(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617
NM_004646.3(NPHS1):c.174del (p.Gly59fs) rs1057516942
NM_004646.3(NPHS1):c.1757+1G>A rs1555762591
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1822G>A (p.Val608Ile) rs367976914
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1931-1G>A rs1555762381
NM_004646.3(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.3(NPHS1):c.2023_2024del (p.Ala675fs) rs755763002
NM_004646.3(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.3(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2262G>A (p.Gly754=) rs267605438
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.3(NPHS1):c.2536_2539CTAA[1] (p.Thr847fs) rs1244884053
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.3(NPHS1):c.2663_2663+9del rs771953692
NM_004646.3(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.3(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.2815+3A>G rs1223946044
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.3006_3012del (p.Gln1004fs) rs748819031
NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.3(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.3(NPHS1):c.3115dup (p.His1039fs) rs1057516637
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499
NM_004646.3(NPHS1):c.3167-1G>A rs1009762900
NM_004646.3(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.3(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.3(NPHS1):c.3286+5G>A rs1555759089
NM_004646.3(NPHS1):c.3287-11G>A rs1175331248
NM_004646.3(NPHS1):c.3287-2A>G rs758432802
NM_004646.3(NPHS1):c.3312-1G>A rs786204729
NM_004646.3(NPHS1):c.3312-23C>T rs755493354
NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042
NM_004646.3(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173
NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919
NM_004646.3(NPHS1):c.3528_3530TGA[1] (p.Asp1177del) rs887991752
NM_004646.3(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.3(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580
NM_004646.3(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.3(NPHS1):c.3554dup (p.Ser1186fs) rs750714387
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.3594+1G>A rs1555758856
NM_004646.3(NPHS1):c.3613del (p.Trp1205fs) rs1555758163
NM_004646.3(NPHS1):c.3619del (p.Glu1207fs) rs1430464721
NM_004646.3(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.3(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.3(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.3(NPHS1):c.397+2T>C rs1054950770
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.398-2A>G rs1555763974
NM_004646.3(NPHS1):c.43G>C (p.Gly15Arg) rs73928330
NM_004646.3(NPHS1):c.45del (p.Leu16fs) rs1555764281
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534del (p.Thr179fs) rs386833952
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.58+1G>A rs386833954
NM_004646.3(NPHS1):c.595del (p.Glu199fs) rs1057517275
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.3(NPHS1):c.644T>G (p.Leu215Arg) rs755962215
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.809dup (p.Gly270_Asn271insTer) rs1555763503
NM_004646.3(NPHS1):c.822_840+6dup25 rs779725493
NM_004646.3(NPHS1):c.851del (p.Pro284fs) rs1555763460
NM_004646.3(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.3(NPHS1):c.896G>C (p.Arg299Pro) rs755582721
NM_004646.3(NPHS1):c.925G>A (p.Glu309Lys) rs950655735
NM_004646.3(NPHS1):c.928G>A (p.Asp310Asn) rs763972372

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