ClinVar Miner

List of variants reported as pathogenic for familial nephrotic syndrome by Mendelics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) rs369205319 0.00011
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_014625.4(NPHS2):c.981del (p.Gln328fs) rs1572255047
NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter) rs2134504108
NM_016341.4(PLCE1):c.5168-1G>A rs941409069
NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys) rs1184529372

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