ClinVar Miner

List of variants in gene NPHS1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
Download table as spreadsheet
HGVS dbSNP
NM_004646.3(NPHS1):c.*1020C>T rs564256430
NM_004646.3(NPHS1):c.*1021G>A rs536792618
NM_004646.3(NPHS1):c.*1040C>T rs181405524
NM_004646.3(NPHS1):c.*1119A>C rs74509387
NM_004646.3(NPHS1):c.*250G>A rs117894015
NM_004646.3(NPHS1):c.*488T>C rs886054346
NM_004646.3(NPHS1):c.*529C>T rs148755697
NM_004646.3(NPHS1):c.*538G>A rs71354105
NM_004646.3(NPHS1):c.*609G>A rs144206206
NM_004646.3(NPHS1):c.*706A>G rs80296922
NM_004646.3(NPHS1):c.*759A>T rs886054345
NM_004646.3(NPHS1):c.*82G>T rs569295487
NM_004646.3(NPHS1):c.*958G>T rs886054344
NM_004646.3(NPHS1):c.1013-1G>C rs1057517413
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
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.1040G>A (p.Gly347Glu) rs386833862
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.1096A>C (p.Ser366Arg) rs386833864
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.1100G>A (p.Arg367His) rs200905486
NM_004646.3(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.3(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867
NM_004646.3(NPHS1):c.1110T>C (p.Val370=) rs116459838
NM_004646.3(NPHS1):c.1126C>G (p.Leu376Val) rs386833868
NM_004646.3(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.3(NPHS1):c.1134G>A (p.Trp378Ter) rs386833869
NM_004646.3(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.3(NPHS1):c.1135_1136del (p.Arg379fs) rs386833870
NM_004646.3(NPHS1):c.1138C>T (p.Gln380Ter) rs386833872
NM_004646.3(NPHS1):c.115G>A (p.Glu39Lys) rs375670819
NM_004646.3(NPHS1):c.1170+7C>T rs906888001
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609
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.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1250G>T (p.Cys417Phe) rs386833875
NM_004646.3(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) rs140626538
NM_004646.3(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.3(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1316-2A>G rs1555763090
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
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.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1440+11C>T rs750251097
NM_004646.3(NPHS1):c.1440+2T>C rs1568455470
NM_004646.3(NPHS1):c.1481del (p.Ser494fs) rs386833883
NM_004646.3(NPHS1):c.151C>T (p.Leu51=) rs114385015
NM_004646.3(NPHS1):c.1536_1541GCTGGT[1] (p.513_514LV[1]) rs1555762721
NM_004646.3(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884
NM_004646.3(NPHS1):c.1583G>T (p.Cys528Phe) rs386833885
NM_004646.3(NPHS1):c.1592G>T (p.Gly531Val) rs1281962144
NM_004646.3(NPHS1):c.1598T>C (p.Leu533Pro) rs886054351
NM_004646.3(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.1672C>T (p.Arg558Cys) rs386833886
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1707C>G (p.Ser569Arg) rs386833888
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.1724C>A (p.Pro575Gln) rs386833890
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.1756A>G (p.Arg586Gly) rs730880174
NM_004646.3(NPHS1):c.1757+1G>A rs1555762591
NM_004646.3(NPHS1):c.1758-11C>G rs145554982
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.3(NPHS1):c.1799A>G (p.Lys600Arg) rs566516658
NM_004646.3(NPHS1):c.1801G>C (p.Gly601Arg) rs386833893
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.1822G>A (p.Val608Ile) rs367976914
NM_004646.3(NPHS1):c.1829T>A (p.Leu610Gln) rs386833894
NM_004646.3(NPHS1):c.1850A>G (p.His617Arg)
NM_004646.3(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1905C>T (p.Ser635=) rs386833896
NM_004646.3(NPHS1):c.191G>C (p.Trp64Ser) rs386833897
NM_004646.3(NPHS1):c.1926A>G (p.Val642=) rs114728208
NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) rs386833898
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.1930+12G>A rs528950
NM_004646.3(NPHS1):c.1931-1G>A rs1555762381
NM_004646.3(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899
NM_004646.3(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.3(NPHS1):c.2019C>A (p.Asn673Lys) rs191807913
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.2043G>T (p.Trp681Cys) rs386833900
NM_004646.3(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2072-6C>G rs200253809
NM_004646.3(NPHS1):c.2072C>A (p.Ala691Glu) rs886054349
NM_004646.3(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.3(NPHS1):c.212T>C (p.Leu71Pro) rs1568457698
NM_004646.3(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.3(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.3(NPHS1):c.216C>A (p.Gly72=) rs764300734
NM_004646.3(NPHS1):c.2171C>G (p.Ser724Cys) rs386833905
NM_004646.3(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004646.3(NPHS1):c.2216C>T (p.Ala739Val) rs386833907
NM_004646.3(NPHS1):c.2223C>T (p.Thr741=) rs2073901
NM_004646.3(NPHS1):c.2225T>C (p.Ile742Thr) rs386833908
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2227del (p.Arg743fs) rs386833910
NM_004646.3(NPHS1):c.2262G>A (p.Gly754=) rs267605438
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_004646.3(NPHS1):c.2346_2348GGA[1] (p.Glu783del) rs1568453391
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.3(NPHS1):c.2405G>C (p.Arg802Pro) rs114203578
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2442C>G (p.Tyr814Ter) rs386833913
NM_004646.3(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.2469G>A (p.Ala823=) rs371646734
NM_004646.3(NPHS1):c.2479C>T (p.Arg827Ter) rs140018064
NM_004646.3(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2495T>C (p.Leu832Pro) rs386833916
NM_004646.3(NPHS1):c.2500G>T (p.Val834Phe) rs386833917
NM_004646.3(NPHS1):c.2506+5G>T rs762704370
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.2541del (p.Lys848fs) rs1555761997
NM_004646.3(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.3(NPHS1):c.2588G>T (p.Cys863Phe) rs1568453194
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.3(NPHS1):c.2618_2620delinsCC (p.Phe873fs) rs386833922
NM_004646.3(NPHS1):c.2622T>C (p.Thr874=) rs886038551
NM_004646.3(NPHS1):c.2625G>A (p.Trp875Ter) rs386833923
NM_004646.3(NPHS1):c.2633dup (p.Asn878fs)
NM_004646.3(NPHS1):c.2654A>T (p.Gln885Leu) rs886054348
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+9del10 rs771953692
NM_004646.3(NPHS1):c.2664-4_2670del rs386833924
NM_004646.3(NPHS1):c.2686C>G (p.Gln896Glu) rs771594710
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.2758T>A (p.Cys920Ser) rs1568453007
NM_004646.3(NPHS1):c.2770_2776del (p.Asn924fs) rs386833925
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.2815+3A>G rs1223946044
NM_004646.3(NPHS1):c.2815+5G>A rs386833927
NM_004646.3(NPHS1):c.2816-4_2822delATAGGCCGCCC rs386833928
NM_004646.3(NPHS1):c.2847_2853del (p.Val949_Val950insTer) rs886042517
NM_004646.3(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.3(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175
NM_004646.3(NPHS1):c.2902G>T (p.Gly968Cys) rs772979927
NM_004646.3(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.3(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054
NM_004646.3(NPHS1):c.2927+1G>A rs386833930
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.3(NPHS1):c.294C>T (p.Ile98=) rs2285450
NM_004646.3(NPHS1):c.2961T>C (p.Tyr987=) rs201263480
NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) rs34736717
NM_004646.3(NPHS1):c.3006_3012del (p.Gln1004fs) rs748819031
NM_004646.3(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.3(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.3(NPHS1):c.3110-8C>T rs149878139
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.3165A>T (p.Ser1055=) rs201738778
NM_004646.3(NPHS1):c.3166+14C>A rs886054347
NM_004646.3(NPHS1):c.3167-1G>A rs1009762900
NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.3206T>C (p.Leu1069Pro) rs756273676
NM_004646.3(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
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.3311+14T>C rs375587420
NM_004646.3(NPHS1):c.3312-1G>A rs786204729
NM_004646.3(NPHS1):c.3312-23C>T rs755493354
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042
NM_004646.3(NPHS1):c.3356_3357dup (p.Thr1120fs) rs386833937
NM_004646.3(NPHS1):c.3364G>C (p.Glu1122Gln) rs548792892
NM_004646.3(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004646.3(NPHS1):c.3388-14C>T rs371907999
NM_004646.3(NPHS1):c.3388-1G>A rs730880176
NM_004646.3(NPHS1):c.3388-2A>G rs386833938
NM_004646.3(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.3(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.3(NPHS1):c.3419G>A (p.Arg1140His) rs369787477
NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173
NM_004646.3(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248
NM_004646.3(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919
NM_004646.3(NPHS1):c.3481+4A>T rs1057524695
NM_004646.3(NPHS1):c.3482-7A>T rs73928326
NM_004646.3(NPHS1):c.3482G>T (p.Gly1161Val) rs386833939
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
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.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.3594+1G>A rs1555758856
NM_004646.3(NPHS1):c.3595-2A>G rs386833940
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
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.3720_*9del (p.Val1241fs) rs386833941
NM_004646.3(NPHS1):c.397+15C>T rs78237760
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.427G>C (p.Glu143Gln) rs540253444
NM_004646.3(NPHS1):c.428A>T (p.Glu143Val) rs781117481
NM_004646.3(NPHS1):c.444_452del (p.Thr149_Val151del) rs1568457279
NM_004646.3(NPHS1):c.460del (p.Gln154fs) rs1568457270
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.3(NPHS1):c.485C>G (p.Ser162Cys) rs376172729
NM_004646.3(NPHS1):c.500C>T (p.Pro167Leu) rs386833945
NM_004646.3(NPHS1):c.505C>A (p.Pro169Thr) rs886054353
NM_004646.3(NPHS1):c.512T>A (p.Ile171Asn) rs386833946
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.3(NPHS1):c.518T>A (p.Ile173Asn) rs386833949
NM_004646.3(NPHS1):c.526+5G>C rs386833950
NM_004646.3(NPHS1):c.528T>C (p.Ser176=) rs539716201
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534del (p.Thr179fs) rs386833952
NM_004646.3(NPHS1):c.559G>A (p.Val187Met)
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.574C>T (p.Gln192Ter) rs386833953
NM_004646.3(NPHS1):c.595del (p.Glu199fs) rs1057517275
NM_004646.3(NPHS1):c.597G>A (p.Glu199=) rs61731102
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.3(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.3(NPHS1):c.644T>G (p.Leu215Arg) rs755962215
NM_004646.3(NPHS1):c.658T>G (p.Ser220Ala) rs115333628
NM_004646.3(NPHS1):c.661_662del (p.Ser221fs) rs386833957
NM_004646.3(NPHS1):c.692C>A (p.Ser231Ter) rs386833958
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004646.3(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.3(NPHS1):c.733A>C (p.Ile245Leu) rs370046047
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.766C>T (p.Arg256Trp) rs386833960
NM_004646.3(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.3(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) rs267606917
NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter) rs749341977
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_004646.3(NPHS1):c.809dup (p.Gly270_Asn271insTer) rs1555763503
NM_004646.3(NPHS1):c.822_840+6dup25 rs779725493
NM_004646.3(NPHS1):c.840+7dupG rs757668116
NM_004646.3(NPHS1):c.851del (p.Pro284fs) rs1555763460
NM_004646.3(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.3(NPHS1):c.881C>T (p.Thr294Ile) rs113825926
NM_004646.3(NPHS1):c.886G>A (p.Ala296Thr) rs386833962
NM_004646.3(NPHS1):c.895C>T (p.Arg299Cys) rs753476209
NM_004646.3(NPHS1):c.896G>C (p.Arg299Pro) rs755582721
NM_004646.3(NPHS1):c.916G>A (p.Val306Met) rs769719915
NM_004646.3(NPHS1):c.925G>A (p.Glu309Lys) rs950655735
NM_004646.3(NPHS1):c.928G>A (p.Asp310Asn) rs763972372
NM_004646.3(NPHS1):c.[1339G>A;2456A>T]
NPHS1, 1-BP INS, 3250G

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.