ClinVar Miner

List of variants studied for Familial idiopathic steroid-resistant nephrotic syndrome by Blueprint Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587 0.00031
NM_024426.6(WT1):c.1265G>T (p.Gly422Val) rs869025561
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576

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