ClinVar Miner

List of variants reported as uncertain significance for Finnish congenital nephrotic syndrome by Natera, Inc.

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.1012+30C>T rs199659985 0.00092
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.646G>C (p.Val216Leu) rs34673364 0.00050
NM_004646.4(NPHS1):c.3110-5C>T rs190769116 0.00041
NM_004646.4(NPHS1):c.219C>T (p.Pro73=) rs115599462 0.00026
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=) rs141375888 0.00013
NM_004646.4(NPHS1):c.492C>T (p.Asp164=) rs147569168 0.00010
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.888G>A (p.Ala296=) rs531224038 0.00009
NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg) rs1333165836 0.00008
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1170+9G>A rs531263446 0.00006
NM_004646.4(NPHS1):c.1725G>T (p.Pro575=) rs140859903 0.00006
NM_004646.4(NPHS1):c.3100A>G (p.Thr1034Ala) rs762614253 0.00005
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2334+9C>T rs756158801 0.00004
NM_004646.4(NPHS1):c.609-10C>T rs763508503 0.00004
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.2970C>T (p.Val990=) rs778497725 0.00003
NM_004646.4(NPHS1):c.2438C>T (p.Ala813Val) rs541575466 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747 0.00001
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572 0.00001
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.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3186G>C (p.Leu1062=) rs1972888608 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 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.1893C>T (p.Arg631=) rs1973121750
NM_004646.4(NPHS1):c.2315T>C (p.Met772Thr) rs1973089245
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.4(NPHS1):c.2916G>A (p.Arg972=) rs374762054
NM_004646.4(NPHS1):c.3111T>G (p.Gly1037=) rs765621356
NM_004646.4(NPHS1):c.3333G>A (p.Arg1111=) rs1972879372
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.396G>C (p.Leu132=) rs567149548
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721

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