ClinVar Miner

List of variants studied for proteinuria

Included ClinVar conditions (17):
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ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76208
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73460
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00300
NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) rs199781223 0.00127
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00121
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00061
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00058
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00019
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00014
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00008
NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr) rs782515769 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00005
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys) rs782540790 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00005
NM_001127898.4(CLCN5):c.298C>T (p.Arg100Trp) rs200225080 0.00005
NM_001127898.4(CLCN5):c.299G>A (p.Arg100Gln) rs782470964 0.00005
NM_001127898.4(CLCN5):c.332A>G (p.Lys111Arg) rs1283938282 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln) rs1445078592 0.00004
NM_001127898.4(CLCN5):c.331A>C (p.Lys111Gln) rs376833330 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00003
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) rs376176735 0.00003
NM_001127898.4(CLCN5):c.1185G>A (p.Leu395=) rs1226957608 0.00003
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00003
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala) rs376559379 0.00002
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_001127898.4(CLCN5):c.1486A>G (p.Ser496Gly) rs1249181679 0.00001
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp) rs782594764 0.00001
NM_001127898.4(CLCN5):c.342A>G (p.Thr114=) rs782744969 0.00001
NM_004646.4(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173 0.00001
NM_014625.4(NPHS2):c.817G>T (p.Gly273Trp) rs201408880 0.00001
NC_000003.12:g.169765160G>C rs199422256
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001127898.4(CLCN5):c.1004G>T (p.Ser335Ile) rs782157715
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1014+3A>T
NM_001127898.4(CLCN5):c.1038A>G (p.Lys346=)
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) rs151340628
NM_001127898.4(CLCN5):c.1052C>A (p.Ser351Ter)
NM_001127898.4(CLCN5):c.1137dup (p.Phe380fs)
NM_001127898.4(CLCN5):c.1145C>A (p.Thr382Asn) rs2519433568
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
NM_001127898.4(CLCN5):c.1244G>T (p.Arg415Leu) rs190451218
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)
NM_001127898.4(CLCN5):c.1333G>A (p.Glu445Lys)
NM_001127898.4(CLCN5):c.1342C>T (p.Arg448Trp)
NM_001127898.4(CLCN5):c.1343G>A (p.Arg448Gln)
NM_001127898.4(CLCN5):c.1349G>A (p.Ser450Asn)
NM_001127898.4(CLCN5):c.1375T>C (p.Phe459Leu)
NM_001127898.4(CLCN5):c.1448del (p.Gly483fs) rs2519434988
NM_001127898.4(CLCN5):c.1485C>G (p.Tyr495Ter)
NM_001127898.4(CLCN5):c.1561C>T (p.Pro521Ser)
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1595G>A (p.Gly532Asp)
NM_001127898.4(CLCN5):c.1601_1602dup (p.Ala535Ter)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter) rs2519440480
NM_001127898.4(CLCN5):c.1658G>A (p.Trp553Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.1744+16A>T
NM_001127898.4(CLCN5):c.1744+1G>C
NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu) rs2147605140
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1790A>C (p.Glu597Ala)
NM_001127898.4(CLCN5):c.2023G>A (p.Val675Met)
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter) rs2147606263
NM_001127898.4(CLCN5):c.2090A>G (p.Glu697Gly)
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2291_2293delinsAA (p.Thr764fs)
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) rs782267039
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) rs1569540520
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.2390A>T (p.Asp797Val)
NM_001127898.4(CLCN5):c.277_282delinsTCTC (p.Val93fs)
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.293G>A (p.Arg98Gln)
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) rs1933255436
NM_001127898.4(CLCN5):c.342del (p.Trp115fs)
NM_001127898.4(CLCN5):c.348del (p.Ala116_Leu117insTer)
NM_001127898.4(CLCN5):c.371dup (p.Ser126fs)
NM_001127898.4(CLCN5):c.416-1G>A
NM_001127898.4(CLCN5):c.416G>A (p.Gly139Asp)
NM_001127898.4(CLCN5):c.449A>G (p.His150Arg)
NM_001127898.4(CLCN5):c.567G>A (p.Trp189Ter)
NM_001127898.4(CLCN5):c.596C>G (p.Thr199Arg)
NM_001127898.4(CLCN5):c.633C>A (p.Phe211Leu)
NM_001127898.4(CLCN5):c.655C>A (p.Leu219Ile)
NM_001127898.4(CLCN5):c.673G>A (p.Val225Ile)
NM_001127898.4(CLCN5):c.772A>T (p.Lys258Ter)
NM_001127898.4(CLCN5):c.809T>C (p.Leu270Pro)
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.933+1G>A rs2519422486
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_002473.6(MYH9):c.3160G>A (p.Glu1054Lys)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1139del (p.Ile380fs) rs2519324628
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+1G>C rs2147717286
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs) rs2519321757
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser) rs2519331997
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs) rs2519331925
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro) rs2519331972
NM_002641.4(PIGA):c.196_206del (p.Lys66fs) rs2519331896
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.329dup (p.Pro111fs) rs2519331657
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.62G>T (p.Cys21Phe)
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val) rs61732523
NM_022489.4(INF2):c.149A>C (p.Tyr50Ser) rs730880113
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA rs1556411578
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs) rs1556463583
NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg) rs1556406783

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