ClinVar Miner

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

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.2126T>G (p.Val709Gly) rs386833902
NM_004646.4(NPHS1):c.3286+1G>A rs1599835856
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro) rs1589433172
NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe) rs2136056550

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