ClinVar Miner

List of variants studied for Finnish congenital nephrotic syndrome by Baylor Genetics

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Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
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.1049C>T (p.Ser350Phe) rs570069789 0.00007
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.1931-34A>G rs1040003208 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.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter) rs1450477596 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 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.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.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.58+1G>A rs386833954 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004646.4(NPHS1):c.1012+2T>A
NM_004646.4(NPHS1):c.1013-1G>T
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.109dup (p.Leu37fs)
NM_004646.4(NPHS1):c.1228del (p.Asp410fs)
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.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.133dup (p.Glu45fs)
NM_004646.4(NPHS1):c.1378del (p.Arg460fs)
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.1531C>T (p.Arg511Ter)
NM_004646.4(NPHS1):c.173del (p.Pro58fs)
NM_004646.4(NPHS1):c.1749del (p.Glu585fs)
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)
NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)
NM_004646.4(NPHS1):c.1930+1G>A
NM_004646.4(NPHS1):c.1930+5G>A
NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2083del (p.Arg695fs)
NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
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.2179_2212+6del
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.2506+1G>A rs1973073001
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)
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.2751_2754del (p.Phe918fs)
NM_004646.4(NPHS1):c.2800C>T (p.Gln934Ter)
NM_004646.4(NPHS1):c.2816-3T>G
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3118C>T (p.Gln1040Ter)
NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3286+1G>A rs1599835856
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3311+1_3311+11del
NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC
NM_004646.4(NPHS1):c.3312-1G>C
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs) rs1972879328
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)
NM_004646.4(NPHS1):c.3482-2A>C
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs) rs750714387
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3594+1G>A rs1555758856
NM_004646.4(NPHS1):c.3595-2A>G rs386833940
NM_004646.4(NPHS1):c.3600_3607del
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
NM_004646.4(NPHS1):c.397+1G>C
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.398-1G>C
NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.4(NPHS1):c.490del (p.Asp164fs)
NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.526+1G>C rs371515262
NM_004646.4(NPHS1):c.527-2A>G
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.59-1G>T
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.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.712delT (p.Phe238fs)
NM_004646.4(NPHS1):c.713-2A>T rs2146828046
NM_004646.4(NPHS1):c.739del (p.Trp247fs)
NM_004646.4(NPHS1):c.740G>A (p.Trp247Ter) rs1599845689
NM_004646.4(NPHS1):c.840+1G>T
NM_004646.4(NPHS1):c.841-2A>C
NM_004646.4(NPHS1):c.902_909del (p.Val301fs)
NM_019109.5(ALG1):c.1061C>A (p.Pro354His) rs549910242

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