ClinVar Miner

List of variants in gene NPHP4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 441
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2817+62A>G rs1622955 0.92259
NM_015102.5(NPHP4):c.993-156G>A rs551207 0.85251
NM_015102.5(NPHP4):c.136-110C>G rs4908639 0.84357
NM_015102.5(NPHP4):c.1956-127A>G rs3737234 0.83973
NM_015102.5(NPHP4):c.2612-33G>A rs3747989 0.83595
NM_015102.5(NPHP4):c.517+192G>T rs875574 0.66081
NM_015102.5(NPHP4):c.3231+41T>C rs868163 0.64813
NM_015102.5(NPHP4):c.517+107T>C rs875573 0.63893
NM_015102.5(NPHP4):c.4140+162A>C rs11121648 0.57251
NM_015102.5(NPHP4):c.993-184C>T rs10779677 0.52481
NM_015102.5(NPHP4):c.3044+97G>A rs1287638 0.52403
NM_015102.5(NPHP4):c.2818-62A>G rs963030 0.44157
NM_015102.5(NPHP4):c.-38-45G>C rs1295111 0.41599
NM_015102.5(NPHP4):c.1955+173T>C rs11122125 0.39381
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.2818-241G>A rs959240 0.36481
NM_015102.5(NPHP4):c.2818-235dup rs544208468 0.36039
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_015102.5(NPHP4):c.3645-38C>T rs1287634 0.34998
NM_015102.5(NPHP4):c.3231+31A>G rs905467 0.20383
NM_015102.5(NPHP4):c.280-216A>G rs2275231 0.17593
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_015102.5(NPHP4):c.673+150A>G rs61762129 0.15699
NM_015102.5(NPHP4):c.3472+62C>T rs2297791 0.13268
NM_015102.5(NPHP4):c.3558+59T>C rs12122135 0.12729
NM_015102.5(NPHP4):c.674-233C>T rs35471669 0.12629
NM_015102.5(NPHP4):c.3816+122C>T rs11121682 0.12193
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.2485+38C>T rs41280814 0.11752
NM_015102.5(NPHP4):c.2485+129C>G rs41280812 0.11747
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_015102.5(NPHP4):c.3232-135T>C rs905469 0.09135
NM_015102.5(NPHP4):c.3316-177G>A rs78598342 0.05253
NM_015102.5(NPHP4):c.3996+128A>G rs12117328 0.05211
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.453-170C>T rs75504751 0.04582
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_015102.5(NPHP4):c.3817-149T>G rs114555857 0.04345
NM_015102.5(NPHP4):c.1303-131T>C rs17432975 0.04108
NM_015102.5(NPHP4):c.3559-140C>T rs114968327 0.03291
NM_015102.5(NPHP4):c.136-224G>C rs114368032 0.03173
NM_015102.5(NPHP4):c.3817-162G>A rs11805141 0.03161
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.3645-180G>A rs114724221 0.02538
NM_015102.5(NPHP4):c.3044+47G>A rs12135056 0.02412
NM_015102.5(NPHP4):c.2304+98A>G rs12081133 0.02405
NM_015102.5(NPHP4):c.1442-189T>C rs72857418 0.02273
NM_015102.5(NPHP4):c.3231+107C>T rs72856177 0.02031
NM_015102.5(NPHP4):c.3559-87G>A rs72856175 0.02014
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.993-56C>T rs182466746 0.00787
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
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.3559-19del rs201335783 0.00292
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
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.3911A>G (p.His1304Arg) rs115488133 0.00124
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.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_015102.5(NPHP4):c.945G>A (p.Thr315=) rs115272639 0.00113
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.3843G>T (p.Leu1281=) rs9662691 0.00076
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.1482G>A (p.Gln494=) rs199557439 0.00064
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.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00048
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015102.5(NPHP4):c.3899G>A (p.Ser1300Asn) rs115869141 0.00042
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114 0.00039
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His) rs369950850 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.2045G>A (p.Arg682Gln) rs543023683 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.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn) rs368298952 0.00033
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448 0.00031
NM_015102.5(NPHP4):c.909C>T (p.Val303=) rs201488441 0.00030
NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) rs371429952 0.00029
NM_015102.5(NPHP4):c.2819C>T (p.Ala940Val) rs200136271 0.00029
NM_015102.5(NPHP4):c.34G>A (p.Val12Met) rs201713171 0.00029
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr) rs202199543 0.00028
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631 0.00026
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556 0.00026
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
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.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu) rs370837214 0.00024
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile) rs772753780 0.00024
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.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.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015102.5(NPHP4):c.39T>G (p.Leu13=) rs368335406 0.00019
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=) rs200569946 0.00017
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser) rs377155892 0.00016
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln) rs202179978 0.00016
NM_015102.5(NPHP4):c.2035A>G (p.Thr679Ala) rs201642456 0.00016
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met) rs571204647 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_015102.5(NPHP4):c.2687G>A (p.Arg896Gln) rs372438267 0.00015
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp) rs778505641 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_015102.5(NPHP4):c.563C>T (p.Thr188Met) rs200711763 0.00015
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780 0.00014
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) rs368703067 0.00014
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn) rs367636423 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987 0.00013
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898 0.00012
NM_015102.5(NPHP4):c.279+6C>T rs199856317 0.00012
NM_015102.5(NPHP4):c.673+9G>A rs368961102 0.00012
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met) rs528511138 0.00011
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu) rs367694436 0.00010
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys) rs372688518 0.00010
NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile) rs188262700 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.1462C>T (p.Arg488Ter) rs778043242 0.00009
NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) rs762709199 0.00009
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 0.00009
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile) rs746967083 0.00009
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val) rs745698836 0.00008
NM_015102.5(NPHP4):c.2543G>A (p.Arg848Gln) rs398124288 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_015102.5(NPHP4):c.2833C>T (p.Arg945Cys) rs767344564 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
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.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_015102.5(NPHP4):c.-8C>T rs375807896 0.00006
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His) rs369550765 0.00006
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr) rs373614448 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048 0.00006
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) rs775927621 0.00006
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys) rs376773394 0.00006
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val) rs777310738 0.00006
NM_015102.5(NPHP4):c.3169G>A (p.Glu1057Lys) rs755465110 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp) rs762195159 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln) rs768550124 0.00006
NM_015102.5(NPHP4):c.619C>T (p.Leu207=) rs765514910 0.00006
NM_015102.5(NPHP4):c.856C>T (p.Arg286Cys) rs189511182 0.00006
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213 0.00006
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=) rs201192584 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp) rs768582000 0.00005
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221 0.00005
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys) rs771042265 0.00005
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg) rs923103631 0.00005
NM_015102.5(NPHP4):c.3686A>G (p.Tyr1229Cys) rs374390513 0.00005
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924 0.00005
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys) rs773309269 0.00005
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=) rs398124287 0.00004
NM_015102.5(NPHP4):c.1118A>G (p.Asn373Ser) rs556579725 0.00004
NM_015102.5(NPHP4):c.1120-9T>A rs570380438 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=) rs751732786 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.2556C>T (p.Asn852=) rs775487057 0.00004
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438 0.00004
NM_015102.5(NPHP4):c.2886G>A (p.Thr962=) rs368320071 0.00004
NM_015102.5(NPHP4):c.2920G>C (p.Ala974Pro) rs768694389 0.00004
NM_015102.5(NPHP4):c.2927C>T (p.Thr976Ile) rs756219438 0.00004
NM_015102.5(NPHP4):c.2962G>A (p.Ala988Thr) rs770053255 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338 0.00004
NM_015102.5(NPHP4):c.356G>A (p.Arg119Gln) rs748420916 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg) rs762284065 0.00004
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val) rs370410995 0.00004
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg) rs772219240 0.00004
NM_015102.5(NPHP4):c.9C>T (p.Asp3=) rs745503891 0.00004
NM_015102.5(NPHP4):c.1087G>A (p.Val363Met) rs373624347 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met) rs886043364 0.00003
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=) rs775251652 0.00003
NM_015102.5(NPHP4):c.1715C>T (p.Pro572Leu) rs183722664 0.00003
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr) rs368101076 0.00003
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=) rs756449736 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2346C>T (p.His782=) rs1433852047 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932 0.00003
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310 0.00003
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=) rs774354969 0.00003
NM_015102.5(NPHP4):c.2753G>A (p.Arg918Gln) rs1221652464 0.00003
NM_015102.5(NPHP4):c.2818-20C>T rs794727344 0.00003
NM_015102.5(NPHP4):c.2849G>A (p.Arg950Gln) rs762546912 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.3059G>C (p.Ser1020Thr) rs754216736 0.00003
NM_015102.5(NPHP4):c.3226G>C (p.Val1076Leu) rs766365388 0.00003
NM_015102.5(NPHP4):c.3232-11G>A rs191631053 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.3452C>T (p.Pro1151Leu) rs549077156 0.00003
NM_015102.5(NPHP4):c.3525C>T (p.Ser1175=) rs779230173 0.00003
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe) rs757359430 0.00003
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) rs539967736 0.00003
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626 0.00003
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met) rs372485746 0.00003
NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu) rs746256511 0.00003
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr) rs761063669 0.00003
NM_015102.5(NPHP4):c.600C>T (p.His200=) rs376039101 0.00003
NM_015102.5(NPHP4):c.672C>T (p.Ser224=) rs899131824 0.00003
NM_015102.5(NPHP4):c.135+7A>G rs755240438 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met) rs754829412 0.00002
NM_015102.5(NPHP4):c.1442-8C>T rs766872386 0.00002
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser) rs750626428 0.00002
NM_015102.5(NPHP4):c.221C>T (p.Thr74Met) rs201780862 0.00002
NM_015102.5(NPHP4):c.2429C>T (p.Pro810Leu) rs577635238 0.00002
NM_015102.5(NPHP4):c.2453A>G (p.Lys818Arg) rs752985724 0.00002
NM_015102.5(NPHP4):c.2612-5C>T rs760099622 0.00002
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg) rs373981841 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743 0.00002
NM_015102.5(NPHP4):c.3977G>A (p.Arg1326His) rs191062831 0.00002
NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val) rs760369582 0.00002
NM_015102.5(NPHP4):c.518-2A>G rs761142233 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro) rs369951224 0.00001
NM_015102.5(NPHP4):c.1030C>T (p.Arg344Cys) rs777428281 0.00001
NM_015102.5(NPHP4):c.1050C>T (p.Gly350=) rs1367350631 0.00001
NM_015102.5(NPHP4):c.105C>A (p.Leu35=) rs1259706450 0.00001
NM_015102.5(NPHP4):c.1079T>C (p.Leu360Pro) rs794727973 0.00001
NM_015102.5(NPHP4):c.1098C>T (p.Ser366=) rs1449413890 0.00001
NM_015102.5(NPHP4):c.1210A>G (p.Arg404Gly) rs1557768242 0.00001
NM_015102.5(NPHP4):c.126A>G (p.Val42=) rs1452420538 0.00001
NM_015102.5(NPHP4):c.1271A>G (p.Lys424Arg) rs537585040 0.00001
NM_015102.5(NPHP4):c.1437T>A (p.Pro479=) rs767115144 0.00001
NM_015102.5(NPHP4):c.1571C>T (p.Ser524Leu) rs1268005672 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.1927A>G (p.Met643Val) rs371464727 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp) rs771873685 0.00001
NM_015102.5(NPHP4):c.203G>A (p.Arg68Gln) rs761188193 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.222G>A (p.Thr74=) rs768099247 0.00001
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile) rs754838672 0.00001
NM_015102.5(NPHP4):c.2433C>T (p.Ile811=) rs779482394 0.00001
NM_015102.5(NPHP4):c.2465A>G (p.His822Arg) rs794727210 0.00001
NM_015102.5(NPHP4):c.2487T>C (p.Gly829=) rs759022050 0.00001
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110 0.00001
NM_015102.5(NPHP4):c.2730C>A (p.Ala910=) rs771685224 0.00001
NM_015102.5(NPHP4):c.280-5T>G rs908276068 0.00001
NM_015102.5(NPHP4):c.2817+3A>G rs1553158243 0.00001
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile) rs377683582 0.00001
NM_015102.5(NPHP4):c.309C>T (p.His103=) rs762489156 0.00001
NM_015102.5(NPHP4):c.3150G>A (p.Gln1050=) rs776468806 0.00001
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala) rs201591531 0.00001
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=) rs1036816659 0.00001
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met) rs761546950 0.00001
NM_015102.5(NPHP4):c.3345C>T (p.Pro1115=) rs1340607654 0.00001
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His) rs763251283 0.00001
NM_015102.5(NPHP4):c.3526G>A (p.Asp1176Asn) rs893677386 0.00001
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp) rs772214126 0.00001
NM_015102.5(NPHP4):c.3597C>T (p.Ala1199=) rs933460121 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3762G>A (p.Gly1254=) rs762953303 0.00001
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) rs377183096 0.00001
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys) rs531607950 0.00001
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=) rs766613810 0.00001
NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val) rs537985340 0.00001
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=) rs754549864 0.00001
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys) rs373315843 0.00001
NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=) rs767715436 0.00001
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu) rs763112800 0.00001
NM_015102.5(NPHP4):c.510C>T (p.Pro170=) rs545943420 0.00001
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His) rs1027187670 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.821C>T (p.Pro274Leu) rs752624938 0.00001
NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr) rs1187572016 0.00001
GRCh37/hg19 1p36.31(chr1:5979667-6007969)x1
GRCh37/hg19 1p36.32-36.31(chr1:5380494-6043818)x3
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe) rs769587826
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly) rs1557804355
NM_015102.5(NPHP4):c.1060T>C (p.Phe354Leu)
NM_015102.5(NPHP4):c.1064C>T (p.Ala355Val)
NM_015102.5(NPHP4):c.1102G>A (p.Ala368Thr)
NM_015102.5(NPHP4):c.1120-13_1120-9del rs1553180077
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs) rs1557768696
NM_015102.5(NPHP4):c.118G>A (p.Gly40Arg)
NM_015102.5(NPHP4):c.1204T>A (p.Ser402Thr) rs886043608
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro) rs1382775969
NM_015102.5(NPHP4):c.1236G>T (p.Gly412=) rs1557768045
NM_015102.5(NPHP4):c.1257C>T (p.His419=) rs768393994
NM_015102.5(NPHP4):c.1344G>A (p.Ser448=) rs765179963
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1387A>G (p.Ser463Gly) rs1557755510
NM_015102.5(NPHP4):c.1393C>T (p.Pro465Ser) rs780162040
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
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.1462C>G (p.Arg488Gly) rs778043242
NM_015102.5(NPHP4):c.1496G>C (p.Gly499Ala)
NM_015102.5(NPHP4):c.1499C>T (p.Pro500Leu) rs938118880
NM_015102.5(NPHP4):c.1503+73C>T rs116830098
NM_015102.5(NPHP4):c.1527C>A (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1557G>A (p.Leu519=) rs1557704555
NM_015102.5(NPHP4):c.1611+111C>A rs9628990
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro) rs1557700541
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1775A>G (p.Gln592Arg) rs762627000
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.1858G>A (p.Val620Ile) rs1557699298
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.18G>T (p.Arg6Ser) rs1557896510
NM_015102.5(NPHP4):c.1952G>A (p.Ser651Asn) rs1557698712
NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter) rs1557697311
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His) rs375416303
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2071_2079dup (p.Ala691_Gln693dup) rs768381001
NM_015102.5(NPHP4):c.2170A>G (p.Met724Val) rs886598057
NM_015102.5(NPHP4):c.2184G>A (p.Gly728=) rs1475748304
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
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.2327C>G (p.Pro776Arg) rs201527181
NM_015102.5(NPHP4):c.2327C>T (p.Pro776Leu) rs201527181
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015102.5(NPHP4):c.239A>G (p.Lys80Arg)
NM_015102.5(NPHP4):c.2510G>A (p.Arg837Lys) rs794727229
NM_015102.5(NPHP4):c.2612-55T>G rs3747988
NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys) rs886044065
NM_015102.5(NPHP4):c.2647_2653delinsATGGACC (p.Val883_Ser885delinsMetAspArg) rs886044677
NM_015102.5(NPHP4):c.280-4G>T rs190495420
NM_015102.5(NPHP4):c.2807C>A (p.Thr936Lys) rs201074950
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs) rs1557619525
NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys) rs1557860994
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.2989A>G (p.Asn997Asp) rs1553157133
NM_015102.5(NPHP4):c.3081G>T (p.Lys1027Asn) rs745993624
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu) rs1557616029
NM_015102.5(NPHP4):c.3164C>T (p.Pro1055Leu) rs1398568182
NM_015102.5(NPHP4):c.3165C>G (p.Pro1055=) rs1166080060
NM_015102.5(NPHP4):c.3214C>T (p.Gln1072Ter) rs1328836511
NM_015102.5(NPHP4):c.3220G>C (p.Ala1074Pro)
NM_015102.5(NPHP4):c.3237T>C (p.Ser1079=) rs941893164
NM_015102.5(NPHP4):c.3292G>T (p.Ala1098Ser)
NM_015102.5(NPHP4):c.3316-2A>G rs2100471616
NM_015102.5(NPHP4):c.3378G>A (p.Gln1126=) rs1557593487
NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met) rs368313554
NM_015102.5(NPHP4):c.3389T>G (p.Val1130Gly) rs752042066
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=) rs373955397
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs) rs775221217
NM_015102.5(NPHP4):c.3528C>T (p.Asp1176=) rs1570058481
NM_015102.5(NPHP4):c.3559-64del rs35241273
NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=) rs528547815
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs) rs1557588167
NM_015102.5(NPHP4):c.3678G>A (p.Trp1226Ter)
NM_015102.5(NPHP4):c.3754C>T (p.Leu1252Phe) rs398124290
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp) rs1344500018
NM_015102.5(NPHP4):c.3817-169A>G rs1287635
NM_015102.5(NPHP4):c.382T>C (p.Cys128Arg) rs1553196752
NM_015102.5(NPHP4):c.3832G>A (p.Val1278Ile) rs1305595456
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) rs537859714
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015102.5(NPHP4):c.3943C>G (p.Leu1315Val) rs776086986
NM_015102.5(NPHP4):c.3997-8C>T rs1570027768
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs) rs1557578607
NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro) rs746129070
NM_015102.5(NPHP4):c.4211T>C (p.Ile1404Thr) rs1553151351
NM_015102.5(NPHP4):c.4233T>C (p.His1411=) rs1557575235
NM_015102.5(NPHP4):c.442C>G (p.Gln148Glu) rs372862010
NM_015102.5(NPHP4):c.452+60del rs34702999
NM_015102.5(NPHP4):c.453-127G>A rs12084942
NM_015102.5(NPHP4):c.511G>T (p.Ala171Ser) rs113765431
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015102.5(NPHP4):c.607C>T (p.Pro203Ser)
NM_015102.5(NPHP4):c.609T>G (p.Pro203=) rs1570653978
NM_015102.5(NPHP4):c.622G>A (p.Val208Met) rs759490134
NM_015102.5(NPHP4):c.669del (p.Glu223fs) rs2102140073
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) rs752644932
NM_015102.5(NPHP4):c.714G>C (p.Thr238=) rs1011986078
NM_015102.5(NPHP4):c.7G>A (p.Asp3Asn) rs145078518
NM_015102.5(NPHP4):c.822A>C (p.Pro274=) rs1466097723
NM_015102.5(NPHP4):c.857G>T (p.Arg286Leu) rs536212285
NM_015102.5(NPHP4):c.96G>T (p.Gln32His) rs776102193
NM_015102.5(NPHP4):c.992+195del rs147579829

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