ClinVar Miner

List of variants in gene combination KIRREL2, NPHS1 reported as uncertain significance for congenital nephrotic syndrome, Finnish type

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met) rs191850409 0.00026
NM_004646.4(NPHS1):c.219C>T (p.Pro73=) rs115599462 0.00026
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr) rs376793744 0.00006
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu) rs752777463 0.00001
NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys) rs1168071834 0.00001
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_004646.4(NPHS1):c.10G>A (p.Gly4Arg) rs1338229781
NM_004646.4(NPHS1):c.146T>G (p.Val49Gly) rs1973263497
NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)
NM_004646.4(NPHS1):c.41T>C (p.Leu14Pro) rs1060499706
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) rs1339541913

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