ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance for Finnish congenital nephrotic syndrome

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.1012+30C>T rs199659985 0.00092
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.646G>C (p.Val216Leu) rs34673364 0.00050
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.3110-5C>T rs190769116 0.00041
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln) rs114203578 0.00028
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004646.4(NPHS1):c.1289A>G (p.Lys430Arg) rs368523939 0.00014
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499 0.00014
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=) rs141375888 0.00013
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004646.4(NPHS1):c.492C>T (p.Asp164=) rs147569168 0.00010
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.888G>A (p.Ala296=) rs531224038 0.00009
NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg) rs1333165836 0.00008
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1170+9G>A rs531263446 0.00006
NM_004646.4(NPHS1):c.1725G>T (p.Pro575=) rs140859903 0.00006
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.3100A>G (p.Thr1034Ala) rs762614253 0.00005
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2334+9C>T rs756158801 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.609-10C>T rs763508503 0.00004
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.2970C>T (p.Val990=) rs778497725 0.00003
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val) rs781117481 0.00003
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser) rs748287435 0.00003
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys) rs950655735 0.00003
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.1931-34A>G rs1040003208 0.00002
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) rs549487912 0.00002
NM_004646.4(NPHS1):c.2438C>T (p.Ala813Val) rs541575466 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala) rs370844834 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys) rs376172729 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr) rs781420585 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.1440+11C>T rs750251097 0.00001
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747 0.00001
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.3186G>C (p.Leu1062=) rs1972888608 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 0.00001
NM_004646.4(NPHS1):c.3312-23C>T rs755493354 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg) rs755962215 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004646.4(NPHS1):c.*488T>C rs886054346
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.4(NPHS1):c.1168G>T (p.Asp390Tyr) rs1336745494
NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala) rs1973174583
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)
NM_004646.4(NPHS1):c.1440+2T>C rs1568455470
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1]) rs1555762721
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)
NM_004646.4(NPHS1):c.1758-10G>A rs2146823474
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.4(NPHS1):c.1893C>T (p.Arg631=) rs1973121750
NM_004646.4(NPHS1):c.1931-16G>A rs1392236567
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr) rs775313529
NM_004646.4(NPHS1):c.2315T>C (p.Met772Thr) rs1973089245
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln) rs2146819820
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.4(NPHS1):c.2459A>G (p.Asn820Ser) rs2146819740
NM_004646.4(NPHS1):c.2504G>C (p.Arg835Thr) rs1973073113
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2637G>T (p.Gly879=) rs1431580668
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2708T>C (p.Leu903Pro) rs755991857
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp) rs2146818958
NM_004646.4(NPHS1):c.2916G>A (p.Arg972=) rs374762054
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg)
NM_004646.4(NPHS1):c.3108A>C (p.Pro1036=)
NM_004646.4(NPHS1):c.3111T>G (p.Gly1037=) rs765621356
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3286G>A (p.Gly1096Ser) rs2146807926
NM_004646.4(NPHS1):c.3287-11G>A rs1175331248
NM_004646.4(NPHS1):c.3333G>A (p.Arg1111=) rs1972879372
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3481+1G>A
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.4(NPHS1):c.396G>C (p.Leu132=) rs567149548
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro) rs755582721

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