ClinVar Miner

List of variants reported as pathogenic for proteinuria

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NC_000003.12:g.169765160G>C rs199422256
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
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.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) rs1569540520
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) rs1933255436
NM_001127898.4(CLCN5):c.342del (p.Trp115fs)
NM_001127898.4(CLCN5):c.371dup (p.Ser126fs)
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
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.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA rs1556411578

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