ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 326
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
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_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 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_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
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_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1352+1del rs747861275 0.00001
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) rs764740388 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
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
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter) rs919854764 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823 0.00001
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695 0.00001
2q13 deletion (290 kb)
NC_000001.10:g.(?_5933292)_(5940319_?)del
NC_000001.10:g.(?_5950908)_(5951108_?)del
NC_000001.10:g.(?_5964657)_(5969293_?)del
NC_000002.11:g.(?_110879913)_(110963639_?)del
NC_000002.11:g.(?_110881368)_(110959091_?)del
NC_000002.12:g.(?_110091603)_(110204968_?)del
NC_000002.12:g.(?_110123771)_(110204988_?)del
NC_000002.12:g.(?_110123791)_(110201494_?)del
NC_000002.12:g.(?_110123791)_(110204968_?)del
NC_000002.12:g.(?_110144493)_(110150256_?)del
NC_000002.12:g.(?_110163048)_(110204968_?)del
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
NC_000003.11:g.(?_121459590)_(121547499_?)del
NC_000003.11:g.(?_121526171)_(121527876_?)del
NC_000003.11:g.(?_121547297)_(121547807_?)del
NC_000003.11:g.(?_132379382)_(133191429_?)del
NC_000003.11:g.(?_132410016)_(132411682_?)del
NC_000003.12:g.(?_121772557)_(121781874_?)del
NC_000003.12:g.(?_132681890)_(132684814_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)del
NC_000009.11:g.(?_103008898)_(103009069_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)del
NC_000009.11:g.(?_103027084)_(103035378_?)del
NC_000009.12:g.(?_100104498)_(100104627_?)del
NC_000009.12:g.(?_100126363)_(100126569_?)del
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) rs2108643223
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) rs776023179
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.273dup (p.Val92fs) rs1201853761
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.490del (p.Leu164fs) rs2108591614
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) rs2108571563
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs) rs773848660
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) rs1949313357
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs) rs772720024
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs) rs1680874514
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs) rs2104480049
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) rs1679301117
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) rs1679148969
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.735del (p.His247fs)
NM_001128178.3(NPHP1):c.739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+130A>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.771+77_771+78del rs1682584195
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs) rs2104553788
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter) rs1328879943
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
NM_001128178.3(NPHP1):c.937del (p.Asp313fs) rs2104548314
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
NM_014425.5(INVS):c.1211del (p.Asp404fs)
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
NM_014425.5(INVS):c.1367del (p.Gly456fs)
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
NM_014425.5(INVS):c.1690del (p.Ala564fs)
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.177_180dup (p.Leu61fs) rs1564123602
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs) rs1588145141
NM_014425.5(INVS):c.1812del (p.Glu605fs)
NM_014425.5(INVS):c.1822del (p.Gln608fs)
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) rs764384987
NM_014425.5(INVS):c.2012del (p.Gln671fs)
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) rs150001738
NM_014425.5(INVS):c.2116del (p.Arg706fs)
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
NM_014425.5(INVS):c.2372dup (p.Lys792fs) rs2118762244
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
NM_014425.5(INVS):c.245del (p.Arg82fs)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2729del (p.Lys910fs) rs757019335
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2801del (p.Lys934fs) rs2118781593
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
NM_014425.5(INVS):c.337del (p.Glu113fs)
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.497del (p.Lys166fs)
NM_014425.5(INVS):c.630dup (p.Glu211fs)
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
NM_014425.5(INVS):c.673_674del (p.Leu225fs) rs1205325321
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
NM_014425.5(INVS):c.833del (p.Asn278fs)
NM_014425.5(INVS):c.83del (p.Gly28fs) rs763565647
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
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
NM_017909.4(RMND1):c.829_830+2del rs1780336606
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs) rs2107996325
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) rs1576682880
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
NM_153240.5(NPHP3):c.1164del (p.Gly389fs) rs2107990671
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)
NM_153240.5(NPHP3):c.1675del (p.His559fs)
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs) rs780165789
NM_153240.5(NPHP3):c.1976del (p.Pro659fs) rs1939543636
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer) rs757578685
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs) rs2107976854
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter) rs2107971687
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs) rs1939234862
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter) rs777768843
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs) rs1560002113
NM_153240.5(NPHP3):c.30del (p.Ala11fs) rs1311592052
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs) rs746849675
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter) rs2107963367
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs) rs2107961294
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
NM_153240.5(NPHP3):c.3812+1G>T rs1459151671
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter) rs1939045407
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.436del (p.Ser146fs) rs1940156340
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) rs773521620
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs) rs1349623728
NM_170784.3(MKKS):c.592_593del (p.Lys198fs) rs2064903228

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.