ClinVar Miner

List of variants reported as likely pathogenic for Nephrotic syndrome, idiopathic, steroid-resistant

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Total variants: 37
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HGVS dbSNP
NM_014625.3(NPHS2):c.-51G>T rs12406197
NM_014625.3(NPHS2):c.102delinsGG (p.Arg36fs) rs1553316648
NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747
NM_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.3(NPHS2):c.166G>T (p.Glu56Ter) rs1167223941
NM_014625.3(NPHS2):c.166dup (p.Glu56fs) rs1553316611
NM_014625.3(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.3(NPHS2):c.249del (p.Leu84fs) rs1553316575
NM_014625.3(NPHS2):c.275-2A>G rs1553315173
NM_014625.3(NPHS2):c.369del (p.Cys124fs) rs1057516395
NM_014625.3(NPHS2):c.3G>A (p.Met1Ile) rs1057516680
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.479A>T (p.Asp160Val) rs74315346
NM_014625.3(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.538G>A (p.Val180Met) rs74315347
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) rs778055996
NM_014625.3(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_014625.3(NPHS2):c.738+2T>C rs1212702104
NM_014625.3(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_144696.6(AXDND1):c.3032-1830C>T rs1057516523
NM_144696.6(AXDND1):c.3032-1891_3032-1890del rs749740335
NM_144696.6(AXDND1):c.3032-1895G>A rs1057517164
NM_144696.6(AXDND1):c.3032-1898C>T rs1490010141
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_144696.6(AXDND1):c.3032-1910C>T rs1553312833
NM_144696.6(AXDND1):c.3032-1911A>T rs967339926
NM_144696.6(AXDND1):c.3032-3059T>G rs1031744496
NM_144696.6(AXDND1):c.3032-3060C>T rs776016942
NM_144696.6(AXDND1):c.3032-3077G>A rs199506378
NM_144696.6(AXDND1):c.3032-3135del rs775170915
NM_144696.6(AXDND1):c.3032-3151G>A rs763818901
NM_144696.6(AXDND1):c.3032-3249dup rs1057516900

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