ClinVar Miner

List of variants reported as likely pathogenic for familial nephrotic syndrome by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_022489.4(INF2):c.485T>C (p.Leu162Pro) rs2140647298
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983

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