ClinVar Miner

List of variants in gene NPHS1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 159
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter) rs749341977 0.00006
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter) rs140018064 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter) rs386833958 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NC_000019.10:g.(?_35835695)_(35835771_?)del
NC_000019.10:g.35848389_35848398del
NC_000019.9:g.(?_36317274)_(36326673_?)del
NC_000019.9:g.(?_36330129)_(36335371_?)del
NC_000019.9:g.(?_36338828)_(36339610_?)del
NM_004646.3(NPHS1):c.1172del rs1973176439
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.4(NPHS1):c.1018_1019del (p.Pro339_Pro340insTer)
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.1121G>A (p.Trp374Ter) rs2146827068
NM_004646.4(NPHS1):c.1124G>A (p.Trp375Ter)
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.4(NPHS1):c.1156G>T (p.Glu386Ter) rs1973180778
NM_004646.4(NPHS1):c.1159_1160insTT (p.Thr387fs)
NM_004646.4(NPHS1):c.1235del (p.Gly412fs) rs1161720919
NM_004646.4(NPHS1):c.1279G>T (p.Glu427Ter) rs2146826513
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1422del (p.Ser475fs)
NM_004646.4(NPHS1):c.1437C>G (p.Tyr479Ter)
NM_004646.4(NPHS1):c.1440+1G>A
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
NM_004646.4(NPHS1):c.1531dup (p.Arg511fs)
NM_004646.4(NPHS1):c.1559C>A (p.Ser520Ter)
NM_004646.4(NPHS1):c.1567C>T (p.Gln523Ter) rs1447842872
NM_004646.4(NPHS1):c.1661dup (p.Ser555fs)
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.1753del (p.Glu585fs) rs2146823645
NM_004646.4(NPHS1):c.1768_1772del (p.Val590fs) rs2146823441
NM_004646.4(NPHS1):c.1815del (p.Arg606fs) rs1973124127
NM_004646.4(NPHS1):c.1825del (p.Leu609fs) rs1973123878
NM_004646.4(NPHS1):c.1831C>T (p.Gln611Ter)
NM_004646.4(NPHS1):c.1859_1878del (p.Arg620fs)
NM_004646.4(NPHS1):c.1908_1909insGAGAGGAGGTCGCGGCGCCGGAGGCCCCAGAAGGGTCGACGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACCGTGAGCTCC (p.Phe637delinsGluArgArgSerArgArgArgArgProGlnLysGlyArgArgArgArgGlyLeuGlySerValAlaTer) rs2146823207
NM_004646.4(NPHS1):c.1914T>A (p.Tyr638Ter)
NM_004646.4(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs) rs755763002
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2090_2094del (p.Arg697fs) rs2146822012
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.4(NPHS1):c.2135_2136del (p.Ala712fs)
NM_004646.4(NPHS1):c.2137del (p.Asp713fs)
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2199dup (p.Leu734fs)
NM_004646.4(NPHS1):c.2289del (p.Asp764fs) rs2146821009
NM_004646.4(NPHS1):c.2324G>A (p.Trp775Ter) rs1973089176
NM_004646.4(NPHS1):c.2326del (p.Glu776fs)
NM_004646.4(NPHS1):c.2335-2A>G rs2146819931
NM_004646.4(NPHS1):c.2353C>T (p.Gln785Ter)
NM_004646.4(NPHS1):c.2367dup (p.Met790fs)
NM_004646.4(NPHS1):c.2386G>T (p.Gly796Ter)
NM_004646.4(NPHS1):c.2387del (p.Gly796fs) rs1568453378
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
NM_004646.4(NPHS1):c.2443C>T (p.Gln815Ter)
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2530del (p.Thr844fs)
NM_004646.4(NPHS1):c.2536del (p.Pro845_Leu846insTer)
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs) rs1244884053
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2618del (p.Phe873fs)
NM_004646.4(NPHS1):c.2633dup (p.Asn878fs) rs1315968443
NM_004646.4(NPHS1):c.2663+2T>A rs762392183
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2667C>A (p.Tyr889Ter)
NM_004646.4(NPHS1):c.2686C>T (p.Gln896Ter) rs771594710
NM_004646.4(NPHS1):c.2686del (p.Gln896fs)
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2805del (p.Val936fs)
NM_004646.4(NPHS1):c.2824del (p.Asp942fs)
NM_004646.4(NPHS1):c.2840del (p.Gly946_Leu947insTer)
NM_004646.4(NPHS1):c.2847_2853del (p.Val949_Val950insTer) rs886042517
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter)
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.298del (p.Ala100fs) rs2146832020
NM_004646.4(NPHS1):c.2991del (p.Phe998fs)
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3128_3132del (p.Gly1043fs) rs2146812210
NM_004646.4(NPHS1):c.3135_3136del (p.Glu1046fs)
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004646.4(NPHS1):c.322G>T (p.Glu108Ter) rs2146831931
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3258del (p.Trp1086fs) rs2146807976
NM_004646.4(NPHS1):c.3259C>T (p.Gln1087Ter)
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs) rs1972879328
NM_004646.4(NPHS1):c.3343G>T (p.Glu1115Ter) rs1972879158
NM_004646.4(NPHS1):c.3364G>T (p.Glu1122Ter)
NM_004646.4(NPHS1):c.3481+2T>C
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter) rs2146831207
NM_004646.4(NPHS1):c.459del (p.Gln154fs) rs2146831183
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.479G>A (p.Cys160Tyr) rs386833944
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.593_594del (p.Val198fs)
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)
NM_004646.4(NPHS1):c.616_621del (p.Pro206_Arg207del)
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.649del (p.Cys217fs) rs2146828473
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.699del (p.Thr233_Val234insTer)
NM_004646.4(NPHS1):c.713-1G>A
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter) rs1599845689
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter) rs779099247
NM_004646.4(NPHS1):c.803del (p.Arg268fs)
NM_004646.4(NPHS1):c.816del (p.Pro272_Leu273insTer) rs1973192389
NM_004646.4(NPHS1):c.827_833dup (p.Trp278fs)
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.4(NPHS1):c.877dup (p.His293fs)
NM_004646.4(NPHS1):c.951C>A (p.Cys317Ter)

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.