ClinVar Miner

List of variants in gene NPHS2 reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) rs1572282458
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) rs1572277600

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