ClinVar Miner

List of variants reported as pathogenic for Finnish congenital nephrotic syndrome

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
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.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.1555C>T (p.Pro519Ser) rs386833884 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.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.[1339G>A;2456A>T]
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.4(NPHS1):c.1235del (p.Gly412fs) rs1161720919
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1409del (p.Gly470fs)
NM_004646.4(NPHS1):c.1756A>G (p.Arg586Gly) rs730880174
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.2021C>T (p.Pro674Leu)
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter) rs772222126
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2540_2543del (p.Thr847fs) rs1244884053
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2608_2609dup (p.Asn870fs)
NM_004646.4(NPHS1):c.2633dup (p.Asn878fs) rs1315968443
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)
NM_004646.4(NPHS1):c.2899G>A (p.Gly967Arg)
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3312-1G>C
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
NM_004646.4(NPHS1):c.3595-2A>G rs386833940
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.527-2A>G
NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer)
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.67del (p.Gln23fs)
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.793T>C (p.Cys265Arg) rs267606917
NM_004646.4(NPHS1):c.840+1G>T
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.4(NPHS1):c.869del (p.Gly290fs) rs2146827686
NM_004646.4(NPHS1):c.[2552C>T;2618_2620delinsCC]

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