ClinVar Miner

List of variants in gene KIRREL2, NPHS1 studied for Congenital nephrotic syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.-81C>G rs73928331 0.07158
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01814
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00436
NM_004646.4(NPHS1):c.-140G>A rs79692855 0.00423
NM_004646.4(NPHS1):c.-57G>T rs140404523 0.00386
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00192
NM_004646.4(NPHS1):c.-61G>A rs75799457 0.00171
NM_004646.4(NPHS1):c.151C>T (p.Leu51=) rs114385015 0.00084
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met) rs191850409 0.00026
NM_004646.4(NPHS1):c.-31C>T rs376050812 0.00024
NM_004646.4(NPHS1):c.126G>T (p.Thr42=) rs145683325 0.00022
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr) rs376793744 0.00011
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00005
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu) rs752777463 0.00001

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