ClinVar Miner

List of variants reported as uncertain significance for familial nephrotic syndrome by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.1704A>C (p.Glu568Asp)
NM_016341.4(PLCE1):c.5518T>G (p.Leu1840Val) rs2133612518
NM_022489.4(INF2):c.739G>C (p.Ala247Pro) rs991189454

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