ClinVar Miner

List of variants reported as likely benign for Congenital nephrotic syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.*538G>A rs71354105 0.07071
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.*706A>G rs80296922 0.03134
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.397+15C>T rs78237760 0.00180
NM_004646.4(NPHS1):c.-61G>A rs75799457 0.00171
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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