ClinVar Miner

List of variants reported as uncertain significance for congenital nephrotic syndrome, Finnish type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr) rs376793744 0.00006
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val) rs781117481 0.00003
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) rs549487912 0.00002
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys) rs376172729 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.4(NPHS1):c.1931-16G>A rs1392236567
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) rs1339541913
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721

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