ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as uncertain significance for Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 393
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564 0.00017
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met) rs1238689431 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser) rs369022568 0.00010
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) rs142084136 0.00010
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694 0.00010
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153240.5(NPHP3):c.818A>G (p.Asn273Ser) rs538520481 0.00008
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153240.5(NPHP3):c.1240C>G (p.Gln414Glu) rs373255520 0.00006
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val) rs745831184 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702 0.00006
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723 0.00006
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153240.5(NPHP3):c.393G>C (p.Gln131His) rs757835884 0.00006
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr) rs563850993 0.00006
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) rs756330976 0.00005
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr) rs145715402 0.00004
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu) rs778210113 0.00004
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly) rs773520877 0.00004
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp) rs371254114 0.00004
NM_153240.5(NPHP3):c.1655C>G (p.Pro552Arg) rs375776149 0.00004
NM_153240.5(NPHP3):c.2423A>C (p.Lys808Thr) rs763361711 0.00004
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) rs141073933 0.00004
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys) rs529119466 0.00004
NM_153240.5(NPHP3):c.394-18C>G rs886038737 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755 0.00003
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val) rs145166784 0.00003
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) rs542131508 0.00003
NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val) rs1011685228 0.00003
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys) rs752254827 0.00003
NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn) rs1060503156 0.00003
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala) rs758927671 0.00003
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu) rs768124745 0.00003
NM_153240.5(NPHP3):c.3401G>C (p.Cys1134Ser) rs762890381 0.00003
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg) rs540287231 0.00003
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln) rs769027723 0.00003
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys) rs748615630 0.00002
NM_153240.5(NPHP3):c.1579C>T (p.Leu527Phe) rs772703797 0.00002
NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala) rs781274734 0.00002
NM_153240.5(NPHP3):c.1743+6G>A rs761386522 0.00002
NM_153240.5(NPHP3):c.2041A>G (p.Ile681Val) rs1218293876 0.00002
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln) rs765177103 0.00002
NM_153240.5(NPHP3):c.2475+3A>G rs201981598 0.00002
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2810A>G (p.Asp937Gly) rs1231984938 0.00002
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp) rs941727035 0.00002
NM_153240.5(NPHP3):c.308T>C (p.Val103Ala) rs764479243 0.00002
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3212C>T (p.Ala1071Val) rs374241338 0.00002
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016 0.00002
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln) rs767752387 0.00002
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) rs1411458250 0.00002
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg) rs774681590 0.00002
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser) rs373728120 0.00002
NM_153240.5(NPHP3):c.722C>G (p.Pro241Arg) rs142933414 0.00002
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr) rs1186561814 0.00001
NM_153240.5(NPHP3):c.1288T>G (p.Ser430Ala) rs151118635 0.00001
NM_153240.5(NPHP3):c.1294G>A (p.Asp432Asn) rs947907684 0.00001
NM_153240.5(NPHP3):c.1396G>A (p.Gly466Ser) rs1241694746 0.00001
NM_153240.5(NPHP3):c.1399A>G (p.Ser467Gly) rs751944855 0.00001
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val) rs200659972 0.00001
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) rs375225209 0.00001
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe) rs1250547107 0.00001
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr) rs776287337 0.00001
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser) rs373846495 0.00001
NM_153240.5(NPHP3):c.1690C>T (p.Pro564Ser) rs749602646 0.00001
NM_153240.5(NPHP3):c.1712C>T (p.Ser571Phe) rs748309289 0.00001
NM_153240.5(NPHP3):c.1738C>G (p.Leu580Val) rs1399616263 0.00001
NM_153240.5(NPHP3):c.1747A>T (p.Met583Leu) rs1397511848 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.1841A>G (p.His614Arg) rs1346771272 0.00001
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met) rs780013712 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_153240.5(NPHP3):c.1975C>T (p.Pro659Ser) rs1007912862 0.00001
NM_153240.5(NPHP3):c.2008G>C (p.Asp670His) rs372339999 0.00001
NM_153240.5(NPHP3):c.2060C>T (p.Ser687Phe) rs1017195284 0.00001
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu) rs772613405 0.00001
NM_153240.5(NPHP3):c.2269G>C (p.Glu757Gln) rs776113044 0.00001
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu) rs777858346 0.00001
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser) rs1268939572 0.00001
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) rs747876996 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 0.00001
NM_153240.5(NPHP3):c.2883+5G>A rs948593540 0.00001
NM_153240.5(NPHP3):c.2894C>T (p.Pro965Leu) rs368791854 0.00001
NM_153240.5(NPHP3):c.2905T>A (p.Ser969Thr) rs762539833 0.00001
NM_153240.5(NPHP3):c.2934T>A (p.Asp978Glu) rs141960792 0.00001
NM_153240.5(NPHP3):c.2948G>A (p.Arg983Lys) rs909410608 0.00001
NM_153240.5(NPHP3):c.2981T>A (p.Val994Glu) rs564239365 0.00001
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln) rs762836818 0.00001
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg) rs934058701 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala) rs371290162 0.00001
NM_153240.5(NPHP3):c.3280C>T (p.Arg1094Trp) rs759495075 0.00001
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) rs1157229330 0.00001
NM_153240.5(NPHP3):c.3304C>G (p.Leu1102Val) rs779376432 0.00001
NM_153240.5(NPHP3):c.334A>G (p.Met112Val) rs1465252607 0.00001
NM_153240.5(NPHP3):c.3352C>T (p.Arg1118Cys) rs757710406 0.00001
NM_153240.5(NPHP3):c.3353G>A (p.Arg1118His) rs749623594 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg) rs200287294 0.00001
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys) rs1188632308 0.00001
NM_153240.5(NPHP3):c.3493C>T (p.Arg1165Trp) rs1330141890 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796 0.00001
NM_153240.5(NPHP3):c.3507A>T (p.Leu1169Phe) rs1468602074 0.00001
NM_153240.5(NPHP3):c.3532T>C (p.Tyr1178His) rs113637009 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3680T>C (p.Val1227Ala) rs1464247795 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3706G>A (p.Val1236Ile) rs985289177 0.00001
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met) rs150019603 0.00001
NM_153240.5(NPHP3):c.3866A>C (p.Glu1289Ala) rs759336230 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His) rs781537576 0.00001
NM_153240.5(NPHP3):c.428A>T (p.Glu143Val) rs1576688460 0.00001
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.589C>T (p.Leu197Phe) rs111707939 0.00001
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser) rs199956251 0.00001
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439 0.00001
NM_153240.5(NPHP3):c.707C>G (p.Ala236Gly) rs1488359125 0.00001
NM_153240.5(NPHP3):c.767C>T (p.Pro256Leu) rs374171796 0.00001
NM_153240.5(NPHP3):c.783T>G (p.Ser261Arg) rs752050701 0.00001
NM_153240.5(NPHP3):c.800G>C (p.Gly267Ala) rs1467512285 0.00001
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) rs775337662 0.00001
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile) rs1940015669 0.00001
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) rs75288730 0.00001
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr) rs769409934
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn) rs1939959019
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
NM_153240.5(NPHP3):c.1129G>C (p.Glu377Gln) rs2107990706
NM_153240.5(NPHP3):c.1132G>T (p.Asp378Tyr) rs1939810316
NM_153240.5(NPHP3):c.1139A>T (p.Glu380Val)
NM_153240.5(NPHP3):c.1179A>T (p.Leu393Phe)
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn) rs753749299
NM_153240.5(NPHP3):c.1211G>T (p.Ser404Ile) rs765850571
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro) rs151118635
NM_153240.5(NPHP3):c.1319C>T (p.Thr440Ile)
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys) rs1939731078
NM_153240.5(NPHP3):c.1330G>A (p.Val444Ile) rs921931732
NM_153240.5(NPHP3):c.1337A>C (p.Lys446Thr)
NM_153240.5(NPHP3):c.1350+5A>G rs1422460034
NM_153240.5(NPHP3):c.1358T>G (p.Leu453Arg) rs1021022605
NM_153240.5(NPHP3):c.1360G>A (p.Gly454Ser)
NM_153240.5(NPHP3):c.1379_1380delinsCC (p.Leu460Ser) rs1939692144
NM_153240.5(NPHP3):c.1404G>T (p.Glu468Asp)
NM_153240.5(NPHP3):c.1420G>C (p.Glu474Gln) rs1939691135
NM_153240.5(NPHP3):c.1422A>T (p.Glu474Asp) rs2107985912
NM_153240.5(NPHP3):c.1429T>C (p.Phe477Leu)
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
NM_153240.5(NPHP3):c.1476A>C (p.Glu492Asp) rs371254114
NM_153240.5(NPHP3):c.1477A>G (p.Thr493Ala)
NM_153240.5(NPHP3):c.1487A>G (p.Gln496Arg) rs1939688689
NM_153240.5(NPHP3):c.14C>T (p.Ser5Leu)
NM_153240.5(NPHP3):c.1514G>C (p.Gly505Ala) rs368008794
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His) rs1939605927
NM_153240.5(NPHP3):c.1526A>G (p.Tyr509Cys)
NM_153240.5(NPHP3):c.1534C>T (p.Arg512Cys)
NM_153240.5(NPHP3):c.1535G>A (p.Arg512His)
NM_153240.5(NPHP3):c.1541A>G (p.Asn514Ser) rs1032053554
NM_153240.5(NPHP3):c.1571C>T (p.Pro524Leu) rs1309124422
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro) rs781274734
NM_153240.5(NPHP3):c.1725T>G (p.Ile575Met)
NM_153240.5(NPHP3):c.1732C>G (p.Leu578Val) rs1939573837
NM_153240.5(NPHP3):c.1736C>T (p.Thr579Ile)
NM_153240.5(NPHP3):c.1743+3A>G rs750181541
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg) rs1939565151
NM_153240.5(NPHP3):c.1765G>A (p.Val589Ile) rs753592193
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1794G>C (p.Lys598Asn)
NM_153240.5(NPHP3):c.1814G>A (p.Arg605His) rs763388690
NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
NM_153240.5(NPHP3):c.1887+5C>T rs1939561378
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro) rs2107980092
NM_153240.5(NPHP3):c.1936G>T (p.Val646Leu) rs1362469132
NM_153240.5(NPHP3):c.1945A>C (p.Ile649Leu) rs1213749947
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.1986G>C (p.Arg662Ser) rs77533254
NM_153240.5(NPHP3):c.1989G>T (p.Leu663Phe) rs1939482136
NM_153240.5(NPHP3):c.1dup (p.Met1fs) rs2108008416
NM_153240.5(NPHP3):c.2035T>G (p.Ser679Ala) rs767716649
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp) rs553166708
NM_153240.5(NPHP3):c.2099T>G (p.Leu700Arg) rs1939465838
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln) rs889394540
NM_153240.5(NPHP3):c.2113C>G (p.Arg705Gly) rs776393897
NM_153240.5(NPHP3):c.2119G>A (p.Ala707Thr)
NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)
NM_153240.5(NPHP3):c.2141A>T (p.Tyr714Phe)
NM_153240.5(NPHP3):c.2161A>G (p.Met721Val)
NM_153240.5(NPHP3):c.2171+10G>A
NM_153240.5(NPHP3):c.2171+4A>G rs2107976702
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2183C>G (p.Ala728Gly) rs2107974706
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His) rs148515364
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) rs772613405
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala) rs1215241671
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe) rs1060503157
NM_153240.5(NPHP3):c.2433G>C (p.Leu811Phe) rs1277600730
NM_153240.5(NPHP3):c.2437A>T (p.Thr813Ser) rs2107971625
NM_153240.5(NPHP3):c.2447G>A (p.Cys816Tyr) rs1939330730
NM_153240.5(NPHP3):c.2470C>G (p.Leu824Val)
NM_153240.5(NPHP3):c.2471T>A (p.Leu824Gln)
NM_153240.5(NPHP3):c.2479T>G (p.Trp827Gly)
NM_153240.5(NPHP3):c.2512C>G (p.Pro838Ala)
NM_153240.5(NPHP3):c.2518G>A (p.Val840Ile) rs138865996
NM_153240.5(NPHP3):c.2541G>T (p.Lys847Asn)
NM_153240.5(NPHP3):c.2545A>G (p.Ile849Val) rs1939290522
NM_153240.5(NPHP3):c.2546T>C (p.Ile849Thr) rs1939290471
NM_153240.5(NPHP3):c.2564A>G (p.Gln855Arg)
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
NM_153240.5(NPHP3):c.2749G>A (p.Ala917Thr)
NM_153240.5(NPHP3):c.2756C>T (p.Ala919Val) rs2107968077
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr) rs1939236897
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn) rs1939235108
NM_153240.5(NPHP3):c.2884G>A (p.Ala962Thr)
NM_153240.5(NPHP3):c.2889A>G (p.Ile963Met) rs2107967753
NM_153240.5(NPHP3):c.2902A>G (p.Arg968Gly)
NM_153240.5(NPHP3):c.2909T>C (p.Leu970Ser) rs2107967729
NM_153240.5(NPHP3):c.2913G>T (p.Glu971Asp)
NM_153240.5(NPHP3):c.2926G>A (p.Ala976Thr)
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu) rs903849432
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys) rs1553775714
NM_153240.5(NPHP3):c.293A>T (p.Tyr98Phe) rs1553775714
NM_153240.5(NPHP3):c.2950G>A (p.Val984Ile)
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln) rs559425353
NM_153240.5(NPHP3):c.2995A>G (p.Lys999Glu) rs559425353
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys) rs2107967560
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe) rs1939224766
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp) rs146097715
NM_153240.5(NPHP3):c.3059G>C (p.Gly1020Ala) rs146097715
NM_153240.5(NPHP3):c.307G>A (p.Val103Ile) rs567070832
NM_153240.5(NPHP3):c.3083G>A (p.Arg1028His) rs200722938
NM_153240.5(NPHP3):c.3088C>G (p.Leu1030Val)
NM_153240.5(NPHP3):c.3125+15A>G
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3126-3A>C rs1939185158
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe) rs368696653
NM_153240.5(NPHP3):c.3134A>G (p.Gln1045Arg)
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly) rs756790389
NM_153240.5(NPHP3):c.3139G>C (p.Glu1047Gln) rs1306519589
NM_153240.5(NPHP3):c.3172C>A (p.Gln1058Lys)
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
NM_153240.5(NPHP3):c.3201+6G>A
NM_153240.5(NPHP3):c.3202-3C>G rs748849731
NM_153240.5(NPHP3):c.3220C>T (p.Arg1074Cys) rs750800732
NM_153240.5(NPHP3):c.3229G>A (p.Ala1077Thr) rs753978185
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val) rs369995775
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
NM_153240.5(NPHP3):c.3318A>C (p.Gln1106His) rs1161730457
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3364A>G (p.Met1122Val) rs2107963463
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro) rs767752387
NM_153240.5(NPHP3):c.3386C>A (p.Pro1129Gln) rs1939112649
NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup) rs779803619
NM_153240.5(NPHP3):c.3448C>G (p.Gln1150Glu)
NM_153240.5(NPHP3):c.347A>G (p.Glu116Gly) rs2108007537
NM_153240.5(NPHP3):c.3515A>G (p.Asp1172Gly) rs2107963298
NM_153240.5(NPHP3):c.3517C>T (p.His1173Tyr) rs2107963292
NM_153240.5(NPHP3):c.353A>G (p.Lys118Arg)
NM_153240.5(NPHP3):c.3551C>T (p.Ala1184Val)
NM_153240.5(NPHP3):c.3558G>T (p.Leu1186Phe)
NM_153240.5(NPHP3):c.3560A>G (p.Tyr1187Cys)
NM_153240.5(NPHP3):c.3560A>T (p.Tyr1187Phe) rs774889708
NM_153240.5(NPHP3):c.3571-11_3571-10del
NM_153240.5(NPHP3):c.3571-3T>C
NM_153240.5(NPHP3):c.3578T>C (p.Leu1193Pro)
NM_153240.5(NPHP3):c.3584A>G (p.Lys1195Arg) rs902755372
NM_153240.5(NPHP3):c.3589G>A (p.Val1197Ile) rs1400005418
NM_153240.5(NPHP3):c.3597G>C (p.Leu1199Phe)
NM_153240.5(NPHP3):c.359A>T (p.Asp120Val)
NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg) rs1940240950
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
NM_153240.5(NPHP3):c.3656C>G (p.Ala1219Gly)
NM_153240.5(NPHP3):c.3676G>A (p.Ala1226Thr) rs2107962025
NM_153240.5(NPHP3):c.367A>T (p.Asn123Tyr)
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-16_3697-14del
NM_153240.5(NPHP3):c.3697-3A>G rs2107961442
NM_153240.5(NPHP3):c.3697-7T>G rs777908405
NM_153240.5(NPHP3):c.3697-9T>G rs1939067062
NM_153240.5(NPHP3):c.3698A>G (p.Lys1233Arg) rs2107961440
NM_153240.5(NPHP3):c.3707_3709del (p.Val1236del)
NM_153240.5(NPHP3):c.3734C>A (p.Ala1245Glu) rs1939065629
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
NM_153240.5(NPHP3):c.373C>T (p.Arg125Trp) rs1483057605
NM_153240.5(NPHP3):c.3757C>A (p.Leu1253Met)
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3773C>A (p.Pro1258His) rs778016120
NM_153240.5(NPHP3):c.3785A>G (p.Glu1262Gly) rs1489156590
NM_153240.5(NPHP3):c.3787A>G (p.Thr1263Ala) rs1939063603
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3812+4A>T
NM_153240.5(NPHP3):c.3813-12TC[2]
NM_153240.5(NPHP3):c.3832G>C (p.Glu1278Gln) rs1472447484
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val) rs757964370
NM_153240.5(NPHP3):c.3838G>A (p.Ala1280Thr)
NM_153240.5(NPHP3):c.3841G>A (p.Ala1281Thr) rs1939044718
NM_153240.5(NPHP3):c.3857G>A (p.Arg1286Lys) rs2107960602
NM_153240.5(NPHP3):c.3858G>T (p.Arg1286Ser)
NM_153240.5(NPHP3):c.3872AAG[1] (p.Glu1292del) rs1200012206
NM_153240.5(NPHP3):c.3884C>T (p.Thr1295Ile)
NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln) rs2108007468
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
NM_153240.5(NPHP3):c.3959C>A (p.Ser1320Tyr) rs1350855452
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.403A>G (p.Lys135Glu) rs2108003849
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys) rs761435204
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly) rs1576688460
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys) rs1940155952
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
NM_153240.5(NPHP3):c.460G>C (p.Ala154Pro) rs1553775398
NM_153240.5(NPHP3):c.463A>G (p.Met155Val) rs780207607
NM_153240.5(NPHP3):c.473C>T (p.Ala158Val) rs1940154883
NM_153240.5(NPHP3):c.502G>A (p.Val168Ile)
NM_153240.5(NPHP3):c.520-10C>A rs200144727
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
NM_153240.5(NPHP3):c.598C>G (p.Leu200Val) rs1940132912
NM_153240.5(NPHP3):c.603G>C (p.Gln201His) rs2108002802
NM_153240.5(NPHP3):c.613A>G (p.Ile205Val) rs1940132597
NM_153240.5(NPHP3):c.625G>A (p.Asp209Asn) rs1940132320
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
NM_153240.5(NPHP3):c.644C>T (p.Ser215Leu) rs1940131512
NM_153240.5(NPHP3):c.652A>G (p.Asn218Asp) rs2108002751
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.788T>G (p.Ile263Arg)
NM_153240.5(NPHP3):c.799G>C (p.Gly267Arg)
NM_153240.5(NPHP3):c.802C>T (p.Pro268Ser)
NM_153240.5(NPHP3):c.803C>A (p.Pro268His) rs1477838330
NM_153240.5(NPHP3):c.817A>G (p.Asn273Asp)
NM_153240.5(NPHP3):c.833A>G (p.Asp278Gly) rs1435611774
NM_153240.5(NPHP3):c.838G>A (p.Ala280Thr) rs2107998548
NM_153240.5(NPHP3):c.845C>G (p.Ala282Gly) rs2107998541
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn) rs549852830
NM_153240.5(NPHP3):c.851T>C (p.Leu284Ser) rs1248469945
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala) rs774133053
NM_153240.5(NPHP3):c.895A>G (p.Thr299Ala) rs1306139800
NM_153240.5(NPHP3):c.896C>G (p.Thr299Ser) rs1940015669
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.920C>T (p.Thr307Ile) rs535433647
NM_153240.5(NPHP3):c.923A>G (p.Asp308Gly) rs1940014734
NM_153240.5(NPHP3):c.957+6G>A
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala) rs113091599

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