ClinVar Miner

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

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_014625.4(NPHS2):c.534+13A>T rs192539858 0.00034
NM_014625.4(NPHS2):c.144C>T (p.Ser48=) rs111306764 0.00031
NM_014625.4(NPHS2):c.723C>T (p.Ile241=) rs778145792 0.00006
NM_014625.4(NPHS2):c.138G>T (p.Ser46=) rs1053139144 0.00001
NM_014625.4(NPHS2):c.276T>C (p.Gly92=) rs955807467
NM_014625.4(NPHS2):c.451+15dup rs748179295
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014625.4(NPHS2):c.456T>C (p.Leu152=) rs886038606

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