ClinVar Miner

List of variants studied for idiopathic disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.896del (p.Lys299fs)

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