ClinVar Miner

List of variants reported as likely pathogenic for Finnish congenital nephrotic syndrome by Baylor Genetics

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter) rs1450477596 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.58+1G>A rs386833954 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004646.4(NPHS1):c.1012+2T>A
NM_004646.4(NPHS1):c.1013-1G>T
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.109dup (p.Leu37fs)
NM_004646.4(NPHS1):c.1228del (p.Asp410fs)
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.133dup (p.Glu45fs)
NM_004646.4(NPHS1):c.1378del (p.Arg460fs)
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
NM_004646.4(NPHS1):c.173del (p.Pro58fs)
NM_004646.4(NPHS1):c.1749del (p.Glu585fs)
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter)
NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs)
NM_004646.4(NPHS1):c.1930+1G>A
NM_004646.4(NPHS1):c.1930+5G>A
NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs)
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2083del (p.Arg695fs)
NM_004646.4(NPHS1):c.2083dup (p.Arg695fs)
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
NM_004646.4(NPHS1):c.2179_2212+6del
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala)
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs)
NM_004646.4(NPHS1):c.2506+1G>A rs1973073001
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer)
NM_004646.4(NPHS1):c.2663+2T>A rs762392183
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs)
NM_004646.4(NPHS1):c.2816-3T>G
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter)
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs)
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter)
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter)
NM_004646.4(NPHS1):c.3061del (p.Asp1021fs)
NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs)
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)
NM_004646.4(NPHS1):c.3286+1G>A rs1599835856
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3311+1_3311+11del
NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs) rs1972879328
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter)
NM_004646.4(NPHS1):c.3482-2A>C
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs) rs750714387
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3594+1G>A rs1555758856
NM_004646.4(NPHS1):c.3600_3607del
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3699del (p.Phe1234fs)
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
NM_004646.4(NPHS1):c.397+1G>C
NM_004646.4(NPHS1):c.398-1G>C
NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs)
NM_004646.4(NPHS1):c.490del (p.Asp164fs)
NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)
NM_004646.4(NPHS1):c.526+1G>C rs371515262
NM_004646.4(NPHS1):c.59-1G>T
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.712delT (p.Phe238fs)
NM_004646.4(NPHS1):c.713-2A>T rs2146828046
NM_004646.4(NPHS1):c.739del (p.Trp247fs)
NM_004646.4(NPHS1):c.841-2A>C
NM_004646.4(NPHS1):c.902_909del (p.Val301fs)

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