ClinVar Miner

List of variants in gene NPHS2 reported as likely pathogenic for familial nephrotic syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs) rs1553316648
NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs)
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter) rs1167223941
NM_014625.4(NPHS2):c.166dup (p.Glu56fs) rs1553316611
NM_014625.4(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.4(NPHS2):c.191_192del (p.Val64fs)
NM_014625.4(NPHS2):c.244del (p.Ala82fs)
NM_014625.4(NPHS2):c.249del (p.Leu84fs) rs1553316575
NM_014625.4(NPHS2):c.258_270del (p.Ser86fs)
NM_014625.4(NPHS2):c.274+1G>T
NM_014625.4(NPHS2):c.275-2A>G rs1553315173
NM_014625.4(NPHS2):c.298del (p.Ala100fs)
NM_014625.4(NPHS2):c.31del (p.Glu11fs)
NM_014625.4(NPHS2):c.31dup (p.Glu11fs)
NM_014625.4(NPHS2):c.358T>C (p.Ser120Pro)
NM_014625.4(NPHS2):c.369del (p.Cys124fs) rs1057516395
NM_014625.4(NPHS2):c.370T>C (p.Cys124Arg)
NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) rs1572282458
NM_014625.4(NPHS2):c.379del
NM_014625.4(NPHS2):c.393T>G (p.Tyr131Ter)
NM_014625.4(NPHS2):c.3G>A (p.Met1Ile) rs1057516680
NM_014625.4(NPHS2):c.410_413del (p.Phe137fs)
NM_014625.4(NPHS2):c.413G>C (p.Arg138Pro)
NM_014625.4(NPHS2):c.451+1G>C
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.459_463del (p.Phe155fs)
NM_014625.4(NPHS2):c.468dup (p.Pro157fs)
NM_014625.4(NPHS2):c.479A>T (p.Asp160Val) rs74315346
NM_014625.4(NPHS2):c.483del (p.Tyr162fs)
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.50del (p.Gly17fs)
NM_014625.4(NPHS2):c.525_527delinsA (p.Phe176fs)
NM_014625.4(NPHS2):c.528_529del (p.Phe176fs)
NM_014625.4(NPHS2):c.535-1G>C
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) rs1673966819
NM_014625.4(NPHS2):c.579C>A (p.Cys193Ter)
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.593A>C (p.Glu198Ala)
NM_014625.4(NPHS2):c.62_63insG (p.His21fs)
NM_014625.4(NPHS2):c.635_636del (p.Lys212fs)
NM_014625.4(NPHS2):c.63dup (p.Lys22fs)
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser) rs748812981
NM_014625.4(NPHS2):c.738+1G>A rs1673954981
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880

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