ClinVar Miner

List of variants in gene combination KIRREL2, NPHS1 reported as likely benign for Finnish congenital nephrotic syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004646.3(NPHS1):c.-170T>C rs401824 0.16554
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_004646.4(NPHS1):c.246G>A (p.Arg82=) rs369681703 0.00042
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_004646.4(NPHS1):c.126G>T (p.Thr42=) rs145683325 0.00022
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_004646.4(NPHS1):c.87C>T (p.Ser29=) rs544235158 0.00003
NM_004646.4(NPHS1):c.18G>A (p.Thr6=) rs370650840 0.00001

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