ClinVar Miner

List of variants in gene NPHP4 reported as pathogenic for Nephronophthisis

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242 0.00009
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs) rs748950922 0.00004
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter) rs1237376396 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter) rs780268322 0.00001
NC_000001.10:g.(?_5933292)_(5940319_?)del
NC_000001.10:g.(?_5950908)_(5951108_?)del
NC_000001.10:g.(?_5964657)_(5969293_?)del
NM_015102.5(NPHP4):c.1082_1083dup (p.Tyr362fs) rs2101924403
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1500del (p.Leu502fs)
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs)
NM_015102.5(NPHP4):c.1704dup (p.Gln569fs)
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter) rs113413307
NM_015102.5(NPHP4):c.1715del (p.Pro572fs)
NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter) rs753774833
NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter) rs2101131514
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs) rs1644833186
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)
NM_015102.5(NPHP4):c.202dup (p.Arg68fs)
NM_015102.5(NPHP4):c.2144-1G>A
NM_015102.5(NPHP4):c.2304+1G>A rs757412845
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.5(NPHP4):c.257_258del (p.Pro86fs)
NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter) rs2100733826
NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter) rs2100678099
NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)
NM_015102.5(NPHP4):c.2821_2822insT (p.Gln941fs)
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3083dup (p.Ala1029fs)
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs)
NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)
NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs)
NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter) rs763668545
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs) rs1474013513
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter) rs2100466824
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs) rs775221217
NM_015102.5(NPHP4):c.3506dup (p.Val1170fs)
NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs) rs2100405990
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015102.5(NPHP4):c.477del (p.Arg160fs)
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter) rs997408852
NM_015102.5(NPHP4):c.60_61del (p.Arg20fs) rs770357627
NM_015102.5(NPHP4):c.750dup (p.Ser251fs) rs754862360
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715

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