ClinVar Miner

List of variants in gene NPHP4 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 560
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888 0.00087
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882 0.00081
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637 0.00069
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798 0.00068
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) rs199583130 0.00068
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705 0.00067
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00048
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_015102.5(NPHP4):c.117C>T (p.Asp39=) rs368118106 0.00039
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) rs375796182 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=) rs200183657 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=) rs758757125 0.00034
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.2305-20C>T rs373131898 0.00031
NM_015102.5(NPHP4):c.909C>T (p.Val303=) rs201488441 0.00030
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015102.5(NPHP4):c.2109C>T (p.Leu703=) rs373182062 0.00025
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) rs374690894 0.00022
NM_015102.5(NPHP4):c.3888T>G (p.Leu1296=) rs530723109 0.00021
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.2436C>T (p.Gly812=) rs376696627 0.00019
NM_015102.5(NPHP4):c.39T>G (p.Leu13=) rs368335406 0.00019
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=) rs200569946 0.00017
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.354A>G (p.Lys118=) rs573826727 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.3817-20C>T rs573999865 0.00016
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780 0.00014
NM_015102.5(NPHP4):c.3351C>T (p.Ala1117=) rs371643259 0.00014
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.2486-6A>G rs191289431 0.00012
NM_015102.5(NPHP4):c.673+9G>A rs368961102 0.00012
NM_015102.5(NPHP4):c.280-4G>A rs190495420 0.00011
NM_015102.5(NPHP4):c.3044+11A>C rs778862383 0.00011
NM_015102.5(NPHP4):c.810+11A>G rs567382723 0.00011
NM_015102.5(NPHP4):c.2736C>T (p.Arg912=) rs754514091 0.00010
NM_015102.5(NPHP4):c.280-18C>G rs367703759 0.00010
NM_015102.5(NPHP4):c.3850C>T (p.Arg1284Cys) rs779755743 0.00010
NM_015102.5(NPHP4):c.870C>T (p.Gly290=) rs749844096 0.00010
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.2717G>A (p.Arg906His) rs77973802 0.00009
NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) rs762709199 0.00009
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256 0.00009
NM_015102.5(NPHP4):c.3045-17G>C rs758528343 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_015102.5(NPHP4):c.1320G>A (p.Ser440=) rs775008568 0.00007
NM_015102.5(NPHP4):c.2349G>A (p.Glu783=) rs778596372 0.00007
NM_015102.5(NPHP4):c.280-6C>G rs532995236 0.00007
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr) rs375090704 0.00007
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=) rs756370084 0.00007
NM_015102.5(NPHP4):c.3645-10C>A rs745843093 0.00007
NM_015102.5(NPHP4):c.675C>T (p.Gly225=) rs200203766 0.00007
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092 0.00006
NM_015102.5(NPHP4):c.1576C>T (p.Leu526=) rs759553749 0.00006
NM_015102.5(NPHP4):c.2187C>T (p.Phe729=) rs767577297 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_015102.5(NPHP4):c.3915C>T (p.Leu1305=) rs370424194 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.619C>T (p.Leu207=) rs765514910 0.00006
NM_015102.5(NPHP4):c.674-18G>A rs746544225 0.00006
NM_015102.5(NPHP4):c.1503+19C>T rs368115025 0.00005
NM_015102.5(NPHP4):c.1504-12C>G rs753092403 0.00005
NM_015102.5(NPHP4):c.1581C>T (p.Pro527=) rs140728027 0.00005
NM_015102.5(NPHP4):c.1763+14C>G rs752748198 0.00005
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=) rs201192584 0.00005
NM_015102.5(NPHP4):c.2292C>T (p.Ala764=) rs550547107 0.00005
NM_015102.5(NPHP4):c.2532G>A (p.Pro844=) rs376157441 0.00005
NM_015102.5(NPHP4):c.33C>T (p.Asn11=) rs746542667 0.00005
NM_015102.5(NPHP4):c.3997-15C>T rs754743775 0.00005
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=) rs398124287 0.00004
NM_015102.5(NPHP4):c.1503+12C>T rs1489750005 0.00004
NM_015102.5(NPHP4):c.1524G>A (p.Ala508=) rs760977291 0.00004
NM_015102.5(NPHP4):c.1611+20C>T rs374368843 0.00004
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=) rs751732786 0.00004
NM_015102.5(NPHP4):c.1695C>T (p.Ala565=) rs773050903 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1863C>T (p.Ser621=) rs185572258 0.00004
NM_015102.5(NPHP4):c.2373C>T (p.Tyr791=) rs199687209 0.00004
NM_015102.5(NPHP4):c.2556C>T (p.Asn852=) rs775487057 0.00004
NM_015102.5(NPHP4):c.2619C>T (p.His873=) rs538589311 0.00004
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438 0.00004
NM_015102.5(NPHP4):c.2818-14C>T rs1403445608 0.00004
NM_015102.5(NPHP4):c.285G>A (p.Leu95=) rs767329719 0.00004
NM_015102.5(NPHP4):c.2886G>A (p.Thr962=) rs368320071 0.00004
NM_015102.5(NPHP4):c.2961C>T (p.Val987=) rs113802525 0.00004
NM_015102.5(NPHP4):c.3291C>T (p.Ser1097=) rs543488908 0.00004
NM_015102.5(NPHP4):c.3817-11C>T rs774350462 0.00004
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=) rs763002637 0.00004
NM_015102.5(NPHP4):c.4101C>T (p.Asp1367=) rs985774455 0.00004
NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=) rs776657788 0.00004
NM_015102.5(NPHP4):c.828C>T (p.Asp276=) rs765113652 0.00004
NM_015102.5(NPHP4):c.891C>T (p.Phe297=) rs547403324 0.00004
NM_015102.5(NPHP4):c.903G>A (p.Pro301=) rs757313436 0.00004
NM_015102.5(NPHP4):c.136-13C>T rs749797110 0.00003
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=) rs775251652 0.00003
NM_015102.5(NPHP4):c.1815C>T (p.Gly605=) rs748315715 0.00003
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=) rs756449736 0.00003
NM_015102.5(NPHP4):c.2280C>T (p.Ile760=) rs1013943590 0.00003
NM_015102.5(NPHP4):c.2346C>T (p.His782=) rs1433852047 0.00003
NM_015102.5(NPHP4):c.2358C>T (p.Val786=) rs371647995 0.00003
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=) rs774354969 0.00003
NM_015102.5(NPHP4):c.2901C>T (p.Ile967=) rs764788201 0.00003
NM_015102.5(NPHP4):c.2964C>T (p.Ala988=) rs373285520 0.00003
NM_015102.5(NPHP4):c.3081G>A (p.Lys1027=) rs745993624 0.00003
NM_015102.5(NPHP4):c.3360C>T (p.Cys1120=) rs188869698 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015102.5(NPHP4):c.3525C>T (p.Ser1175=) rs779230173 0.00003
NM_015102.5(NPHP4):c.3561C>T (p.Gly1187=) rs1041168838 0.00003
NM_015102.5(NPHP4):c.4080G>A (p.Arg1360=) rs755937381 0.00003
NM_015102.5(NPHP4):c.518-18T>C rs751941380 0.00003
NM_015102.5(NPHP4):c.600C>T (p.His200=) rs376039101 0.00003
NM_015102.5(NPHP4):c.669A>G (p.Glu223=) rs183537107 0.00003
NM_015102.5(NPHP4):c.135+7A>G rs755240438 0.00002
NM_015102.5(NPHP4):c.1442-8C>T rs766872386 0.00002
NM_015102.5(NPHP4):c.1612-11G>A rs372386562 0.00002
NM_015102.5(NPHP4):c.1797G>A (p.Val599=) rs776240800 0.00002
NM_015102.5(NPHP4):c.1812C>T (p.Ser604=) rs773565122 0.00002
NM_015102.5(NPHP4):c.1914A>G (p.Leu638=) rs373607911 0.00002
NM_015102.5(NPHP4):c.198C>G (p.Thr66=) rs1477004787 0.00002
NM_015102.5(NPHP4):c.2268C>T (p.Ser756=) rs768290484 0.00002
NM_015102.5(NPHP4):c.2305-17G>A rs990115671 0.00002
NM_015102.5(NPHP4):c.2421C>T (p.Arg807=) rs746889951 0.00002
NM_015102.5(NPHP4):c.2612-5C>T rs760099622 0.00002
NM_015102.5(NPHP4):c.2871C>T (p.Ala957=) rs748561999 0.00002
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=) rs753246840 0.00002
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743 0.00002
NM_015102.5(NPHP4):c.3366T>C (p.Thr1122=) rs768531427 0.00002
NM_015102.5(NPHP4):c.3473-5T>A rs112450492 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.673+8C>T rs747456645 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_015102.5(NPHP4):c.992+10C>T rs771032417 0.00002
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.1098C>T (p.Ser366=) rs1449413890 0.00001
NM_015102.5(NPHP4):c.1128G>A (p.Ser376=) rs757711149 0.00001
NM_015102.5(NPHP4):c.1170C>T (p.Arg390=) rs548306539 0.00001
NM_015102.5(NPHP4):c.1303-6T>C rs368753607 0.00001
NM_015102.5(NPHP4):c.136-5C>T rs1318593937 0.00001
NM_015102.5(NPHP4):c.1377G>A (p.Thr459=) rs769077319 0.00001
NM_015102.5(NPHP4):c.1437T>A (p.Pro479=) rs767115144 0.00001
NM_015102.5(NPHP4):c.1452G>A (p.Ala484=) rs776922160 0.00001
NM_015102.5(NPHP4):c.1504-7C>T rs1644953347 0.00001
NM_015102.5(NPHP4):c.1602G>A (p.Pro534=) rs1335554286 0.00001
NM_015102.5(NPHP4):c.1611+15C>T rs1450540379 0.00001
NM_015102.5(NPHP4):c.1710G>A (p.Glu570=) rs768164283 0.00001
NM_015102.5(NPHP4):c.1716G>A (p.Pro572=) rs980891508 0.00001
NM_015102.5(NPHP4):c.1725T>C (p.Pro575=) rs376871620 0.00001
NM_015102.5(NPHP4):c.1763+16G>C rs765362513 0.00001
NM_015102.5(NPHP4):c.1773G>A (p.Gly591=) rs764039659 0.00001
NM_015102.5(NPHP4):c.1821C>T (p.Pro607=) rs749297150 0.00001
NM_015102.5(NPHP4):c.2037G>A (p.Thr679=) rs756780739 0.00001
NM_015102.5(NPHP4):c.2073C>T (p.Ala691=) rs773208084 0.00001
NM_015102.5(NPHP4):c.2095C>T (p.Leu699=) rs745467662 0.00001
NM_015102.5(NPHP4):c.2143+12T>C rs369095959 0.00001
NM_015102.5(NPHP4):c.222G>A (p.Thr74=) rs768099247 0.00001
NM_015102.5(NPHP4):c.2283A>C (p.Gly761=) rs1644089451 0.00001
NM_015102.5(NPHP4):c.2328G>A (p.Pro776=) rs770986448 0.00001
NM_015102.5(NPHP4):c.2433C>T (p.Ile811=) rs779482394 0.00001
NM_015102.5(NPHP4):c.2481C>T (p.Asn827=) rs761721701 0.00001
NM_015102.5(NPHP4):c.2487T>C (p.Gly829=) rs759022050 0.00001
NM_015102.5(NPHP4):c.2493G>A (p.Pro831=) rs546616658 0.00001
NM_015102.5(NPHP4):c.255G>T (p.Pro85=) rs753738829 0.00001
NM_015102.5(NPHP4):c.2595G>A (p.Thr865=) rs1341561466 0.00001
NM_015102.5(NPHP4):c.2612-19C>T rs370230211 0.00001
NM_015102.5(NPHP4):c.2612-20G>A rs757890241 0.00001
NM_015102.5(NPHP4):c.2688G>T (p.Arg896=) rs1421932012 0.00001
NM_015102.5(NPHP4):c.2703C>T (p.Pro901=) rs1200133332 0.00001
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=) rs576473519 0.00001
NM_015102.5(NPHP4):c.2823G>A (p.Gln941=) rs1284379518 0.00001
NM_015102.5(NPHP4):c.2829C>T (p.Ser943=) rs180721913 0.00001
NM_015102.5(NPHP4):c.2844C>T (p.His948=) rs1642441569 0.00001
NM_015102.5(NPHP4):c.2865C>T (p.Ile955=) rs771271850 0.00001
NM_015102.5(NPHP4):c.2874C>T (p.Tyr958=) rs375864811 0.00001
NM_015102.5(NPHP4):c.2946C>T (p.His982=) rs766172633 0.00001
NM_015102.5(NPHP4):c.301C>T (p.Leu101=) rs1489058652 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3044+11_3044+13del rs769643669 0.00001
NM_015102.5(NPHP4):c.3045-14A>G rs938087895 0.00001
NM_015102.5(NPHP4):c.3045-16A>G rs1232724119 0.00001
NM_015102.5(NPHP4):c.309C>T (p.His103=) rs762489156 0.00001
NM_015102.5(NPHP4):c.3123C>T (p.Phe1041=) rs779336075 0.00001
NM_015102.5(NPHP4):c.3231+14G>A rs1270148989 0.00001
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=) rs1036816659 0.00001
NM_015102.5(NPHP4):c.3270C>T (p.Ala1090=) rs767473811 0.00001
NM_015102.5(NPHP4):c.3315+8G>A rs1171727023 0.00001
NM_015102.5(NPHP4):c.3316-15G>A rs745974669 0.00001
NM_015102.5(NPHP4):c.3330G>A (p.Ala1110=) rs753585933 0.00001
NM_015102.5(NPHP4):c.3345C>T (p.Pro1115=) rs1340607654 0.00001
NM_015102.5(NPHP4):c.339C>T (p.Val113=) rs771576802 0.00001
NM_015102.5(NPHP4):c.3438G>A (p.Lys1146=) rs760841174 0.00001
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_015102.5(NPHP4):c.3473-16A>G rs376664242 0.00001
NM_015102.5(NPHP4):c.3534C>T (p.Asn1178=) rs372256326 0.00001
NM_015102.5(NPHP4):c.3558+8G>A rs1349098317 0.00001
NM_015102.5(NPHP4):c.3636C>T (p.Ile1212=) rs779900061 0.00001
NM_015102.5(NPHP4):c.3644+20G>A rs1641222980 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3696C>T (p.Ser1232=) rs1641087208 0.00001
NM_015102.5(NPHP4):c.3804C>T (p.Pro1268=) rs1279952528 0.00001
NM_015102.5(NPHP4):c.3817-17C>G rs1412557461 0.00001
NM_015102.5(NPHP4):c.3817-18C>T rs1460884501 0.00001
NM_015102.5(NPHP4):c.3817-4G>C rs748991363 0.00001
NM_015102.5(NPHP4):c.3841C>T (p.Leu1281=) rs1640987777 0.00001
NM_015102.5(NPHP4):c.3987C>T (p.Leu1329=) rs1352217291 0.00001
NM_015102.5(NPHP4):c.4023C>T (p.Gly1341=) rs774866535 0.00001
NM_015102.5(NPHP4):c.4113G>T (p.Leu1371=) rs747099663 0.00001
NM_015102.5(NPHP4):c.4140+12C>T rs750192016 0.00001
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=) rs766613810 0.00001
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=) rs754549864 0.00001
NM_015102.5(NPHP4):c.4209G>A (p.Glu1403=) rs1270648884 0.00001
NM_015102.5(NPHP4):c.420G>A (p.Pro140=) rs377403419 0.00001
NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=) rs767715436 0.00001
NM_015102.5(NPHP4):c.4260C>T (p.Cys1420=) rs376464726 0.00001
NM_015102.5(NPHP4):c.453-17T>C rs201880900 0.00001
NM_015102.5(NPHP4):c.492C>T (p.His164=) rs863224422 0.00001
NM_015102.5(NPHP4):c.510C>T (p.Pro170=) rs545943420 0.00001
NM_015102.5(NPHP4):c.518-6C>T rs763077205 0.00001
NM_015102.5(NPHP4):c.579G>A (p.Pro193=) rs544402763 0.00001
NM_015102.5(NPHP4):c.673+13T>G rs1164322936 0.00001
NM_015102.5(NPHP4):c.674-17C>T rs778099003 0.00001
NM_015102.5(NPHP4):c.678C>T (p.Asp226=) rs755363322 0.00001
NM_015102.5(NPHP4):c.789C>T (p.His263=) rs760440073 0.00001
NM_015102.5(NPHP4):c.810+17G>A rs1034034444 0.00001
NM_015102.5(NPHP4):c.811-7C>T rs1647229524 0.00001
NM_015102.5(NPHP4):c.879T>C (p.Asn293=) rs892175467 0.00001
NM_015102.5(NPHP4):c.894G>A (p.Val298=) rs964392787 0.00001
NM_015102.5(NPHP4):c.939C>T (p.Ala313=) rs948992122 0.00001
NM_015102.5(NPHP4):c.996C>T (p.Ser332=) rs773569914 0.00001
NM_015102.5(NPHP4):c.1032C>T (p.Arg344=)
NM_015102.5(NPHP4):c.1068C>T (p.Val356=) rs1570580019
NM_015102.5(NPHP4):c.1086C>T (p.Tyr362=) rs762252256
NM_015102.5(NPHP4):c.1104A>G (p.Ala368=)
NM_015102.5(NPHP4):c.1113C>T (p.Asp371=)
NM_015102.5(NPHP4):c.1119+12C>T
NM_015102.5(NPHP4):c.1119+18G>A rs1172328337
NM_015102.5(NPHP4):c.1119+19C>T
NM_015102.5(NPHP4):c.1119+7A>G
NM_015102.5(NPHP4):c.1128G>C (p.Ser376=) rs757711149
NM_015102.5(NPHP4):c.1143C>T (p.Ser381=)
NM_015102.5(NPHP4):c.1152A>T (p.Ala384=)
NM_015102.5(NPHP4):c.1185C>T (p.Asn395=)
NM_015102.5(NPHP4):c.123G>A (p.Pro41=)
NM_015102.5(NPHP4):c.1254G>A (p.Ser418=)
NM_015102.5(NPHP4):c.1257C>T (p.His419=) rs768393994
NM_015102.5(NPHP4):c.1302+13G>C
NM_015102.5(NPHP4):c.1302+18T>A
NM_015102.5(NPHP4):c.1302+19C>T rs1334902413
NM_015102.5(NPHP4):c.135+20G>A
NM_015102.5(NPHP4):c.136-10_136-3dup rs1216905623
NM_015102.5(NPHP4):c.136-12G>A rs371432148
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1380G>A (p.Glu460=) rs367632543
NM_015102.5(NPHP4):c.1441+10T>C
NM_015102.5(NPHP4):c.1442-12G>A
NM_015102.5(NPHP4):c.1442-18C>T
NM_015102.5(NPHP4):c.1446G>A (p.Pro482=) rs758600868
NM_015102.5(NPHP4):c.1455A>C (p.Pro485=) rs369748651
NM_015102.5(NPHP4):c.1455A>T (p.Pro485=)
NM_015102.5(NPHP4):c.1473T>C (p.Ala491=)
NM_015102.5(NPHP4):c.1476C>A (p.Ala492=) rs2101236808
NM_015102.5(NPHP4):c.1479G>A (p.Pro493=) rs201499649
NM_015102.5(NPHP4):c.1503+14C>T
NM_015102.5(NPHP4):c.1503+15C>T
NM_015102.5(NPHP4):c.1503+16C>T
NM_015102.5(NPHP4):c.1503+9A>C
NM_015102.5(NPHP4):c.1504-14C>G rs1453262255
NM_015102.5(NPHP4):c.1504-17G>T
NM_015102.5(NPHP4):c.1518G>A (p.Gln506=)
NM_015102.5(NPHP4):c.1536G>A (p.Arg512=) rs368436034
NM_015102.5(NPHP4):c.1548G>A (p.Gln516=)
NM_015102.5(NPHP4):c.1575G>A (p.Gln525=)
NM_015102.5(NPHP4):c.1596C>T (p.Ala532=)
NM_015102.5(NPHP4):c.1611+12C>T rs2101170399
NM_015102.5(NPHP4):c.1612-12C>T
NM_015102.5(NPHP4):c.1612-14C>G rs540070179
NM_015102.5(NPHP4):c.1612-7dup rs775954365
NM_015102.5(NPHP4):c.1635T>C (p.Gly545=)
NM_015102.5(NPHP4):c.1674G>A (p.Leu558=)
NM_015102.5(NPHP4):c.168C>T (p.Cys56=)
NM_015102.5(NPHP4):c.1701G>A (p.Gln567=)
NM_015102.5(NPHP4):c.1716G>C (p.Pro572=)
NM_015102.5(NPHP4):c.1722G>A (p.Thr574=) rs1191733336
NM_015102.5(NPHP4):c.1734C>T (p.Ala578=) rs1259213564
NM_015102.5(NPHP4):c.1737T>C (p.Pro579=) rs1644880136
NM_015102.5(NPHP4):c.174G>A (p.Leu58=)
NM_015102.5(NPHP4):c.1752C>T (p.Thr584=) rs1443618180
NM_015102.5(NPHP4):c.1764-15G>C
NM_015102.5(NPHP4):c.1764-18G>A
NM_015102.5(NPHP4):c.1764-7_1764-6del
NM_015102.5(NPHP4):c.1773G>T (p.Gly591=) rs764039659
NM_015102.5(NPHP4):c.1782G>A (p.Ser594=) rs1644869198
NM_015102.5(NPHP4):c.1791C>T (p.Ser597=)
NM_015102.5(NPHP4):c.1821C>G (p.Pro607=) rs749297150
NM_015102.5(NPHP4):c.1836C>T (p.Ala612=)
NM_015102.5(NPHP4):c.1881G>A (p.Thr627=)
NM_015102.5(NPHP4):c.1899A>G (p.Glu633=) rs1373373477
NM_015102.5(NPHP4):c.192T>C (p.Asp64=)
NM_015102.5(NPHP4):c.1955+11G>C
NM_015102.5(NPHP4):c.1959G>A (p.Val653=)
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2034A>G (p.Ala678=)
NM_015102.5(NPHP4):c.2040G>A (p.Thr680=)
NM_015102.5(NPHP4):c.2053C>T (p.Leu685=)
NM_015102.5(NPHP4):c.2055G>C (p.Leu685=)
NM_015102.5(NPHP4):c.2061G>A (p.Gln687=)
NM_015102.5(NPHP4):c.2133C>A (p.Thr711=)
NM_015102.5(NPHP4):c.2143+10C>T
NM_015102.5(NPHP4):c.2143+13G>C
NM_015102.5(NPHP4):c.2143+18T>G
NM_015102.5(NPHP4):c.2143+9T>C rs1432441904
NM_015102.5(NPHP4):c.2144-18T>C rs2100923352
NM_015102.5(NPHP4):c.2144-5G>A
NM_015102.5(NPHP4):c.2196A>G (p.Pro732=) rs994648684
NM_015102.5(NPHP4):c.2217C>T (p.Ala739=)
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
NM_015102.5(NPHP4):c.2253C>G (p.Val751=) rs375109277
NM_015102.5(NPHP4):c.2277C>T (p.Leu759=)
NM_015102.5(NPHP4):c.2289T>C (p.Ala763=) rs1161995349
NM_015102.5(NPHP4):c.228A>G (p.Lys76=) rs749799634
NM_015102.5(NPHP4):c.2305-10T>G
NM_015102.5(NPHP4):c.2305-13T>C
NM_015102.5(NPHP4):c.2305-18C>T rs369699238
NM_015102.5(NPHP4):c.2305-5T>C
NM_015102.5(NPHP4):c.2316C>T (p.Arg772=)
NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg) rs201527181
NM_015102.5(NPHP4):c.2352T>G (p.Leu784=) rs1570250696
NM_015102.5(NPHP4):c.243G>A (p.Pro81=)
NM_015102.5(NPHP4):c.2451G>T (p.Val817=)
NM_015102.5(NPHP4):c.2485+20T>G
NM_015102.5(NPHP4):c.2485+7G>A rs1570249475
NM_015102.5(NPHP4):c.2486-13G>A
NM_015102.5(NPHP4):c.2486-7C>T
NM_015102.5(NPHP4):c.2538A>G (p.Arg846=) rs1361552241
NM_015102.5(NPHP4):c.2547C>G (p.Val849=) rs2100735068
NM_015102.5(NPHP4):c.255G>A (p.Pro85=) rs753738829
NM_015102.5(NPHP4):c.2574C>T (p.Phe858=) rs756412252
NM_015102.5(NPHP4):c.2592C>T (p.Leu864=) rs2100734173
NM_015102.5(NPHP4):c.2611+11A>G
NM_015102.5(NPHP4):c.2611+16T>G rs1171703016
NM_015102.5(NPHP4):c.2611+19G>T
NM_015102.5(NPHP4):c.2612-15C>T
NM_015102.5(NPHP4):c.2612-4G>A rs776912822
NM_015102.5(NPHP4):c.2612-4G>T rs776912822
NM_015102.5(NPHP4):c.261C>T (p.Ser87=)
NM_015102.5(NPHP4):c.2622G>A (p.Val874=)
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.2679C>T (p.Thr893=)
NM_015102.5(NPHP4):c.2694C>A (p.Gly898=) rs2100676429
NM_015102.5(NPHP4):c.2709C>T (p.Asp903=)
NM_015102.5(NPHP4):c.2736C>G (p.Arg912=)
NM_015102.5(NPHP4):c.2754G>A (p.Arg918=)
NM_015102.5(NPHP4):c.279+7C>T rs1275766996
NM_015102.5(NPHP4):c.279+8C>T rs1213477175
NM_015102.5(NPHP4):c.280-14C>T
NM_015102.5(NPHP4):c.280-15G>A rs1652119565
NM_015102.5(NPHP4):c.280-20C>T
NM_015102.5(NPHP4):c.2817+16G>A
NM_015102.5(NPHP4):c.2818-15T>C
NM_015102.5(NPHP4):c.2818-18A>G
NM_015102.5(NPHP4):c.2818-19C>G
NM_015102.5(NPHP4):c.2818-8G>C
NM_015102.5(NPHP4):c.2877G>C (p.Arg959=) rs753858949
NM_015102.5(NPHP4):c.2934G>A (p.Glu978=)
NM_015102.5(NPHP4):c.294C>T (p.His98=) rs1652112362
NM_015102.5(NPHP4):c.2982G>T (p.Val994=)
NM_015102.5(NPHP4):c.3018T>C (p.Thr1006=)
NM_015102.5(NPHP4):c.3027C>A (p.Ile1009=) rs762202268
NM_015102.5(NPHP4):c.3030C>T (p.Asp1010=) rs2100630935
NM_015102.5(NPHP4):c.3036C>G (p.Pro1012=) rs34265978
NM_015102.5(NPHP4):c.3044+10C>T
NM_015102.5(NPHP4):c.3044+11A>G
NM_015102.5(NPHP4):c.3044+17G>A
NM_015102.5(NPHP4):c.3044+7T>C
NM_015102.5(NPHP4):c.3045-4C>G rs886046462
NM_015102.5(NPHP4):c.3063G>A (p.Gln1021=)
NM_015102.5(NPHP4):c.3096G>A (p.Leu1032=)
NM_015102.5(NPHP4):c.3114G>A (p.Glu1038=) rs2100621671
NM_015102.5(NPHP4):c.3117C>T (p.Asp1039=)
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3174C>A (p.Thr1058=) rs374354239
NM_015102.5(NPHP4):c.3213G>A (p.Gly1071=)
NM_015102.5(NPHP4):c.3219G>A (p.Leu1073=) rs1008653830
NM_015102.5(NPHP4):c.3231+19C>T rs773830689
NM_015102.5(NPHP4):c.3231+7dup rs2100617783
NM_015102.5(NPHP4):c.3232-10del rs757249675
NM_015102.5(NPHP4):c.3237T>C (p.Ser1079=) rs941893164
NM_015102.5(NPHP4):c.3261C>T (p.Gly1087=)
NM_015102.5(NPHP4):c.3294A>G (p.Ala1098=) rs1570122961
NM_015102.5(NPHP4):c.3312C>A (p.Ala1104=) rs1359151965
NM_015102.5(NPHP4):c.3315+13C>T
NM_015102.5(NPHP4):c.3315+14G>A
NM_015102.5(NPHP4):c.3315+17G>A
NM_015102.5(NPHP4):c.3316-16C>T
NM_015102.5(NPHP4):c.3381C>G (p.Pro1127=)
NM_015102.5(NPHP4):c.3384C>T (p.His1128=)
NM_015102.5(NPHP4):c.3390G>A (p.Val1130=) rs2100468642
NM_015102.5(NPHP4):c.3405C>T (p.Arg1135=)
NM_015102.5(NPHP4):c.3423C>T (p.Leu1141=)
NM_015102.5(NPHP4):c.3441C>T (p.Ala1147=)
NM_015102.5(NPHP4):c.3450G>C (p.Leu1150=)
NM_015102.5(NPHP4):c.3472+12A>G
NM_015102.5(NPHP4):c.3472+18C>G
NM_015102.5(NPHP4):c.3472+19C>T
NM_015102.5(NPHP4):c.3473-21_3473-20del
NM_015102.5(NPHP4):c.3473-9C>G rs1245769383
NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=) rs373955397
NM_015102.5(NPHP4):c.3492T>C (p.Leu1164=) rs750516114
NM_015102.5(NPHP4):c.3507A>G (p.Pro1169=) rs1021024243
NM_015102.5(NPHP4):c.3519C>T (p.Arg1173=)
NM_015102.5(NPHP4):c.3558+17C>T
NM_015102.5(NPHP4):c.3558+20C>T
NM_015102.5(NPHP4):c.3558+9T>C rs2100448647
NM_015102.5(NPHP4):c.3559-4G>T rs2100437350
NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=) rs528547815
NM_015102.5(NPHP4):c.3564C>T (p.Pro1188=) rs528547815
NM_015102.5(NPHP4):c.3576G>T (p.Arg1192=)
NM_015102.5(NPHP4):c.3624C>T (p.Asp1208=)
NM_015102.5(NPHP4):c.3644+12G>C
NM_015102.5(NPHP4):c.3644+9A>G rs1212503871
NM_015102.5(NPHP4):c.3645-20T>G
NM_015102.5(NPHP4):c.3660G>A (p.Ala1220=)
NM_015102.5(NPHP4):c.3675G>A (p.Thr1225=)
NM_015102.5(NPHP4):c.3693C>T (p.His1231=)
NM_015102.5(NPHP4):c.3714C>G (p.Val1238=)
NM_015102.5(NPHP4):c.3717C>A (p.Ser1239=) rs757328687
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=) rs890957347
NM_015102.5(NPHP4):c.3742C>T (p.Leu1248=)
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3783G>C (p.Val1261=)
NM_015102.5(NPHP4):c.3810G>A (p.Glu1270=)
NM_015102.5(NPHP4):c.3816+10C>T
NM_015102.5(NPHP4):c.3816+17G>A
NM_015102.5(NPHP4):c.3816+8C>T
NM_015102.5(NPHP4):c.3817-10G>A
NM_015102.5(NPHP4):c.3817-13C>T
NM_015102.5(NPHP4):c.3817-7C>G rs1488891728
NM_015102.5(NPHP4):c.3817-9C>T rs2100390843
NM_015102.5(NPHP4):c.3858G>T (p.Val1286=) rs1640983918
NM_015102.5(NPHP4):c.3867G>A (p.Leu1289=) rs1313637784
NM_015102.5(NPHP4):c.3897C>G (p.Gly1299=)
NM_015102.5(NPHP4):c.3909C>G (p.Val1303=) rs751495640
NM_015102.5(NPHP4):c.3921G>T (p.Leu1307=)
NM_015102.5(NPHP4):c.3924G>A (p.Val1308=) rs1640973825
NM_015102.5(NPHP4):c.3939C>T (p.His1313=) rs1024184538
NM_015102.5(NPHP4):c.3996+13G>A
NM_015102.5(NPHP4):c.3996+17G>C
NM_015102.5(NPHP4):c.3996+9G>A rs1038768700
NM_015102.5(NPHP4):c.3996+9G>T
NM_015102.5(NPHP4):c.3997-12C>T
NM_015102.5(NPHP4):c.3997-13C>T rs1640921431
NM_015102.5(NPHP4):c.3997-17G>C rs375105445
NM_015102.5(NPHP4):c.3997-5C>T rs2100375793
NM_015102.5(NPHP4):c.3997-7T>A
NM_015102.5(NPHP4):c.4026A>G (p.Glu1342=)
NM_015102.5(NPHP4):c.4062C>T (p.Asn1354=)
NM_015102.5(NPHP4):c.4065C>T (p.Pro1355=) rs2100373320
NM_015102.5(NPHP4):c.4092G>C (p.Leu1364=)
NM_015102.5(NPHP4):c.4098C>T (p.Ser1366=)
NM_015102.5(NPHP4):c.4113G>C (p.Leu1371=) rs747099663
NM_015102.5(NPHP4):c.4140+11G>A
NM_015102.5(NPHP4):c.4140+16G>A
NM_015102.5(NPHP4):c.4141-12G>A
NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)
NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)
NM_015102.5(NPHP4):c.4233T>C (p.His1411=) rs1557575235
NM_015102.5(NPHP4):c.4245C>T (p.Asn1415=)
NM_015102.5(NPHP4):c.4269C>T (p.Val1423=)
NM_015102.5(NPHP4):c.452+9C>G rs1036557189
NM_015102.5(NPHP4):c.453-14G>A
NM_015102.5(NPHP4):c.453-20C>T
NM_015102.5(NPHP4):c.474C>A (p.Thr158=) rs2102229351
NM_015102.5(NPHP4):c.495G>A (p.Pro165=)
NM_015102.5(NPHP4):c.517+13C>T
NM_015102.5(NPHP4):c.517+17G>C
NM_015102.5(NPHP4):c.517+20T>G
NM_015102.5(NPHP4):c.518-14G>A
NM_015102.5(NPHP4):c.518-14G>C
NM_015102.5(NPHP4):c.518-15T>C
NM_015102.5(NPHP4):c.518-17del
NM_015102.5(NPHP4):c.549C>T (p.Cys183=)
NM_015102.5(NPHP4):c.594G>A (p.Ala198=) rs141538649
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015102.5(NPHP4):c.63G>A (p.Ala21=)
NM_015102.5(NPHP4):c.657A>G (p.Pro219=) rs2102140258
NM_015102.5(NPHP4):c.673+17T>G
NM_015102.5(NPHP4):c.673+7G>A
NM_015102.5(NPHP4):c.674-10A>G rs1031299307
NM_015102.5(NPHP4):c.674-11C>T rs1365187773
NM_015102.5(NPHP4):c.674-19C>T
NM_015102.5(NPHP4):c.674-4T>G
NM_015102.5(NPHP4):c.674-7G>C rs1557821969
NM_015102.5(NPHP4):c.714G>A (p.Thr238=) rs1011986078
NM_015102.5(NPHP4):c.714G>C (p.Thr238=) rs1011986078
NM_015102.5(NPHP4):c.759G>A (p.Glu253=) rs1648400875
NM_015102.5(NPHP4):c.786C>G (p.Leu262=)
NM_015102.5(NPHP4):c.810+11A>T
NM_015102.5(NPHP4):c.810+15G>T rs368702718
NM_015102.5(NPHP4):c.810+16C>G
NM_015102.5(NPHP4):c.810+16C>T
NM_015102.5(NPHP4):c.810+8del
NM_015102.5(NPHP4):c.813A>C (p.Gly271=) rs2101940859
NM_015102.5(NPHP4):c.87G>A (p.Thr29=)
NM_015102.5(NPHP4):c.916C>T (p.Leu306=)
NM_015102.5(NPHP4):c.921G>T (p.Val307=) rs2101938919
NM_015102.5(NPHP4):c.969A>G (p.Lys323=)
NM_015102.5(NPHP4):c.975C>G (p.Val325=)
NM_015102.5(NPHP4):c.992+11T>C
NM_015102.5(NPHP4):c.992+13G>A
NM_015102.5(NPHP4):c.992+14G>C
NM_015102.5(NPHP4):c.992+19C>T
NM_015102.5(NPHP4):c.992+20C>G
NM_015102.5(NPHP4):c.992+8C>T
NM_015102.5(NPHP4):c.993-15G>C rs2101925931
NM_015102.5(NPHP4):c.993-7G>A rs2101925873
NM_015102.5(NPHP4):c.99T>C (p.Cys33=)

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