ClinVar Miner

List of variants in gene NPHS2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_014625.3(NPHS2):c.104dup (p.Arg36fs) rs1320543506
NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) rs869312746
NM_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.3(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977
NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) rs74315345
NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) rs869025495
NM_014625.3(NPHS2):c.378+1G>A rs762631237
NM_014625.3(NPHS2):c.385C>T (p.Gln129Ter) rs755972674
NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) rs74315343
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.452-1G>A rs1060499703
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) rs74315346
NM_014625.3(NPHS2):c.535-1G>T rs1291398331
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.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_014625.3(NPHS2):c.[-52C>G(;)-51G>T]
NM_014625.4(NPHS2):c.576_577del (p.Ile192fs)
NPHS2, 1-BP DEL, 419G

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