ClinVar Miner

List of variants studied for Proteinuria

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Total variants: 16
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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
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) rs199781223 0.00127
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173 0.00001
NM_014625.4(NPHS2):c.817G>T (p.Gly273Trp) rs201408880 0.00001
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val) rs61732523
NM_022489.4(INF2):c.149A>C (p.Tyr50Ser) rs730880113
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993

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