ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 793
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228 0.00154
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_153240.5(NPHP3):c.2883+13G>C rs112375565 0.00122
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619 0.00107
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153240.5(NPHP3):c.1629-17C>A rs145056102 0.00024
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564 0.00017
NM_153240.5(NPHP3):c.3990G>A (p.Arg1330=) rs147332157 0.00016
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val) rs764000635 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met) rs1238689431 0.00013
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 0.00012
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.1744-12C>G rs367785168 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
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.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695 0.00009
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.2884-5C>T rs764010022 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.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153240.5(NPHP3):c.3330-19T>C rs372840443 0.00007
NM_153240.5(NPHP3):c.957+16A>C rs368705884 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.1887+17del rs772091214 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=) rs368406864 0.00006
NM_153240.5(NPHP3):c.2172-12C>T rs886038736 0.00006
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=) rs767339363 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.3570+17A>G rs377589434 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.958-2A>G rs780148543 0.00006
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=) rs1025642403 0.00005
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=) rs139351534 0.00005
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) rs756330976 0.00005
NM_153240.5(NPHP3):c.894C>T (p.Asn298=) rs988823074 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.1083T>C (p.Ser361=) rs781244729 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.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 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.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys) rs529119466 0.00004
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 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.1119-12T>C rs753569204 0.00003
NM_153240.5(NPHP3):c.1629-19T>G rs1176486903 0.00003
NM_153240.5(NPHP3):c.1744-7C>G rs758273843 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 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.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 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.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 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.1986-7A>G rs373733344 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.2112T>C (p.Cys704=) rs761833505 0.00002
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr) rs770302939 0.00002
NM_153240.5(NPHP3):c.2171+8G>A rs147825615 0.00002
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=) rs780587933 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2475+3A>G rs201981598 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 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.2985C>T (p.Tyr995=) rs777768843 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.3429T>G (p.Ala1143=) rs772904943 0.00002
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) rs1411458250 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 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.393+1G>C rs754332448 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153240.5(NPHP3):c.671-18A>G rs776019324 0.00002
NM_153240.5(NPHP3):c.722C>G (p.Pro241Arg) rs142933414 0.00002
NM_153240.5(NPHP3):c.978G>A (p.Lys326=) rs759490137 0.00002
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr) rs1186561814 0.00001
NM_153240.5(NPHP3):c.1118+7T>C rs755103165 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 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.1311A>G (p.Val437=) rs1393593329 0.00001
NM_153240.5(NPHP3):c.1351-6G>A rs758073939 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.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val) rs200659972 0.00001
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128 0.00001
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) rs375225209 0.00001
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.1521G>A (p.Glu507=) rs762044969 0.00001
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe) rs1250547107 0.00001
NM_153240.5(NPHP3):c.1581C>T (p.Leu527=) rs183241346 0.00001
NM_153240.5(NPHP3):c.1618T>C (p.Leu540=) rs1346281529 0.00001
NM_153240.5(NPHP3):c.1620A>G (p.Leu540=) rs772704156 0.00001
NM_153240.5(NPHP3):c.1629-17_1629-13del rs1197764455 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.1692C>T (p.Pro564=) rs1448083146 0.00001
NM_153240.5(NPHP3):c.1712C>T (p.Ser571Phe) rs748309289 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 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.1791T>C (p.Ala597=) rs1269919387 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.1911G>A (p.Trp637Ter) rs919854764 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.1975C>T (p.Pro659Ser) rs1007912862 0.00001
NM_153240.5(NPHP3):c.1986-10T>C rs1449961171 0.00001
NM_153240.5(NPHP3):c.1986-20T>G rs372668523 0.00001
NM_153240.5(NPHP3):c.1986-8C>T rs780778474 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.2088+14A>T rs773344647 0.00001
NM_153240.5(NPHP3):c.2109C>T (p.His703=) rs765177103 0.00001
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2172-19C>A rs759217005 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 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.2310+20T>C rs767427222 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser) rs1268939572 0.00001
NM_153240.5(NPHP3):c.2560T>C (p.Leu854=) rs758928870 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.2658T>C (p.Leu886=) rs773079895 0.00001
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) rs747876996 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.2883+5G>A rs948593540 0.00001
NM_153240.5(NPHP3):c.2883+8C>G rs373257282 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 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.2937C>T (p.Pro979=) rs774962213 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.3036G>A (p.Leu1012=) rs1036061016 0.00001
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln) rs762836818 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg) rs934058701 0.00001
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 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.3306C>G (p.Leu1102=) rs757542289 0.00001
NM_153240.5(NPHP3):c.3318A>G (p.Gln1106=) rs1161730457 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.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.3393C>T (p.His1131=) rs1416876931 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3432A>G (p.Leu1144=) rs764978219 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.3480A>G (p.Arg1160=) rs1393705320 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.3537G>A (p.Thr1179=) rs761585621 0.00001
NM_153240.5(NPHP3):c.3540G>A (p.Val1180=) rs1939108951 0.00001
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776 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.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3705C>T (p.His1235=) rs753143081 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.3816T>C (p.Tyr1272=) rs777264064 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.3912A>G (p.Ser1304=) rs114049311 0.00001
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His) rs781537576 0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823 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.520-12T>C rs763909286 0.00001
NM_153240.5(NPHP3):c.589C>T (p.Leu197Phe) rs111707939 0.00001
NM_153240.5(NPHP3):c.600A>G (p.Leu200=) rs749309370 0.00001
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser) rs199956251 0.00001
NM_153240.5(NPHP3):c.657T>C (p.Cys219=) rs200533815 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 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.801A>T (p.Gly267=) rs763333048 0.00001
NM_153240.5(NPHP3):c.823+20A>G rs898519948 0.00001
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) rs775337662 0.00001
NM_153240.5(NPHP3):c.876A>G (p.Ser292=) rs777368543 0.00001
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile) rs1940015669 0.00001
NM_153240.5(NPHP3):c.903A>G (p.Arg301=) rs375395871 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) rs75288730 0.00001
NM_153240.5(NPHP3):c.987C>T (p.Cys329=) rs138124482 0.00001
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695 0.00001
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr) rs769409934
NM_153240.5(NPHP3):c.1026A>G (p.Pro342=)
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=) rs756382033
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs) rs2107996325
NM_153240.5(NPHP3):c.1044A>G (p.Gln348=) rs1560014152
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) rs1576682880
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1118+16del rs560151715
NM_153240.5(NPHP3):c.1118+16dup rs560151715
NM_153240.5(NPHP3):c.1118+17T>C rs766373582
NM_153240.5(NPHP3):c.1118+18G>A rs2107996221
NM_153240.5(NPHP3):c.1118+8del
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn) rs1939959019
NM_153240.5(NPHP3):c.1119-18T>C
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
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.1164del (p.Gly389fs) rs2107990671
NM_153240.5(NPHP3):c.1167A>G (p.Gly389=)
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.1221T>C (p.Ser407=)
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
NM_153240.5(NPHP3):c.1275+10A>G
NM_153240.5(NPHP3):c.1275+12del rs2107990515
NM_153240.5(NPHP3):c.1275+14G>T
NM_153240.5(NPHP3):c.1276-7del rs2107987665
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro) rs151118635
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
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+10C>A
NM_153240.5(NPHP3):c.1350+11A>G rs1159005602
NM_153240.5(NPHP3):c.1350+5A>G rs1422460034
NM_153240.5(NPHP3):c.1351-11T>C rs2107986017
NM_153240.5(NPHP3):c.1351-15G>A rs2107986026
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.1441C>T (p.Leu481=)
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met) rs771804922
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
NM_153240.5(NPHP3):c.1470A>G (p.Gln490=) rs2107985821
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.1515A>G (p.Gly505=) rs1411856886
NM_153240.5(NPHP3):c.1524+7G>T rs760682707
NM_153240.5(NPHP3):c.1525-12T>G
NM_153240.5(NPHP3):c.1525-13dup rs762115717
NM_153240.5(NPHP3):c.1525-20A>G
NM_153240.5(NPHP3):c.1525-2A>G
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.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=) rs368126549
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.1548A>G (p.Leu516=) rs1453032510
NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)
NM_153240.5(NPHP3):c.1571C>T (p.Pro524Leu) rs1309124422
NM_153240.5(NPHP3):c.15G>A (p.Ser5=) rs2108008379
NM_153240.5(NPHP3):c.1608G>A (p.Lys536=) rs200647158
NM_153240.5(NPHP3):c.1628+19A>C
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.1628+9C>A rs1199591337
NM_153240.5(NPHP3):c.1628+9C>T
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
NM_153240.5(NPHP3):c.1663C>T (p.Leu555=)
NM_153240.5(NPHP3):c.1675del (p.His559fs)
NM_153240.5(NPHP3):c.1689G>A (p.Arg563=)
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
NM_153240.5(NPHP3):c.1707A>G (p.Ser569=)
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro) rs781274734
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
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+17T>G rs2107981287
NM_153240.5(NPHP3):c.1743+19T>C
NM_153240.5(NPHP3):c.1743+3A>G rs750181541
NM_153240.5(NPHP3):c.1744-4G>T rs750318426
NM_153240.5(NPHP3):c.1744-8T>C
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg) rs1939565151
NM_153240.5(NPHP3):c.1752G>A (p.Gln584=) rs1409547506
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.1779A>G (p.Thr593=)
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.1832_1833del (p.Ser611fs) rs780165789
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
NM_153240.5(NPHP3):c.1887+10T>A
NM_153240.5(NPHP3):c.1887+11C>A
NM_153240.5(NPHP3):c.1887+5C>T rs1939561378
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro) rs2107980092
NM_153240.5(NPHP3):c.1923A>G (p.Pro641=)
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.1976del (p.Pro659fs) rs1939543636
NM_153240.5(NPHP3):c.1985+18G>A rs754296173
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
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>A (p.Leu663=) rs1939482136
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.2040del (p.Ile680_Ile681insTer) rs757578685
NM_153240.5(NPHP3):c.2052A>G (p.Glu684=)
NM_153240.5(NPHP3):c.2074T>C (p.Leu692=) rs1939479118
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp) rs553166708
NM_153240.5(NPHP3):c.2089-4G>T
NM_153240.5(NPHP3):c.2089-8T>C
NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)
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.2111_2112del (p.Cys704fs) rs2107976854
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.2157C>G (p.Gly719=) rs1939463263
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.2172-11G>A
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G rs547310372
NM_153240.5(NPHP3):c.2183C>G (p.Ala728Gly) rs2107974706
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
NM_153240.5(NPHP3):c.2193A>G (p.Leu731=) rs2107974699
NM_153240.5(NPHP3):c.21C>G (p.Leu7=)
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His) rs148515364
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
NM_153240.5(NPHP3):c.2238A>G (p.Ser746=) rs2107974643
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) rs772613405
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
NM_153240.5(NPHP3):c.2310+10A>G rs1939404058
NM_153240.5(NPHP3):c.2310+17T>A
NM_153240.5(NPHP3):c.2311-12T>G rs1939334269
NM_153240.5(NPHP3):c.2311-13T>G
NM_153240.5(NPHP3):c.2311-14G>A
NM_153240.5(NPHP3):c.2311-6A>C rs769918347
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2311-9T>C
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
NM_153240.5(NPHP3):c.2361G>C (p.Leu787=)
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter) rs2107971687
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala) rs1215241671
NM_153240.5(NPHP3):c.2394C>T (p.Phe798=) rs534190640
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe) rs1060503157
NM_153240.5(NPHP3):c.2431T>C (p.Leu811=) rs2107971631
NM_153240.5(NPHP3):c.2433G>A (p.Leu811=) rs1277600730
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.2439T>A (p.Thr813=) rs2107971620
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.2475+19T>A
NM_153240.5(NPHP3):c.2476-14C>T
NM_153240.5(NPHP3):c.2479T>G (p.Trp827Gly)
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
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.2562G>A (p.Leu854=)
NM_153240.5(NPHP3):c.2564A>G (p.Gln855Arg)
NM_153240.5(NPHP3):c.2570+10A>G rs1576665035
NM_153240.5(NPHP3):c.2570+18G>A
NM_153240.5(NPHP3):c.2571-14C>G
NM_153240.5(NPHP3):c.2577C>T (p.Asp859=)
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
NM_153240.5(NPHP3):c.2610G>T (p.Pro870=)
NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
NM_153240.5(NPHP3):c.2721T>C (p.Tyr907=) rs1486007292
NM_153240.5(NPHP3):c.2749G>A (p.Ala917Thr)
NM_153240.5(NPHP3):c.2756C>T (p.Ala919Val) rs2107968077
NM_153240.5(NPHP3):c.2760A>G (p.Thr920=) rs2107968069
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2799C>T (p.Cys933=)
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
NM_153240.5(NPHP3):c.2808G>A (p.Glu936=)
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr) rs1939236897
NM_153240.5(NPHP3):c.2823C>T (p.Cys941=)
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)
NM_153240.5(NPHP3):c.2871C>T (p.Gly957=) rs2107967950
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn) rs1939235108
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs) rs1939234862
NM_153240.5(NPHP3):c.2884-16dup rs2107967791
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.2884-6C>T
NM_153240.5(NPHP3):c.2884-8C>A rs757300023
NM_153240.5(NPHP3):c.2884-9T>C
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.2928T>G (p.Ala976=) rs2107967702
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.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.2970A>G (p.Gln990=) rs2107967635
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter) rs777768843
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.3003del (p.Phe1001fs) rs1560002113
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys) rs2107967560
NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)
NM_153240.5(NPHP3):c.3033G>A (p.Ala1011=)
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe) rs1939224766
NM_153240.5(NPHP3):c.3048A>G (p.Glu1016=) rs1170253406
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.30del (p.Ala11fs) rs1311592052
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
NM_153240.5(NPHP3):c.3125+15A>G
NM_153240.5(NPHP3):c.3125+19G>A rs2107967402
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-13A>T
NM_153240.5(NPHP3):c.3126-17T>C rs186041429
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3126-3A>C rs1939185158
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.3126-7T>G rs1262764918
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe) rs368696653
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
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.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3172C>A (p.Gln1058Lys)
NM_153240.5(NPHP3):c.3180T>G (p.Ala1060=) rs2107965871
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.3201+6G>A
NM_153240.5(NPHP3):c.3202-3C>G rs748849731
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
NM_153240.5(NPHP3):c.3213C>T (p.Ala1071=)
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.3255_3256dup (p.Gly1086fs)
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3279T>G (p.Ala1093=)
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val) rs369995775
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
NM_153240.5(NPHP3):c.3297G>A (p.Leu1099=) rs1560000891
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3318A>C (p.Gln1106His) rs1161730457
NM_153240.5(NPHP3):c.3321T>C (p.Asn1107=) rs1576661719
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3330-18T>C rs1476177804
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.339C>G (p.Gly113=)
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs) rs746849675
NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter) rs2107963367
NM_153240.5(NPHP3):c.3444G>A (p.Lys1148=)
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.3531A>G (p.Ala1177=)
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.3570+18T>C rs2107963185
NM_153240.5(NPHP3):c.3571-10del
NM_153240.5(NPHP3):c.3571-10dup
NM_153240.5(NPHP3):c.3571-11_3571-10del
NM_153240.5(NPHP3):c.3571-14C>T
NM_153240.5(NPHP3):c.3571-15A>T
NM_153240.5(NPHP3):c.3571-3T>C
NM_153240.5(NPHP3):c.3571-3dup
NM_153240.5(NPHP3):c.3571-7T>G
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
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.3604T>C (p.Leu1202=)
NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)
NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg) rs1940240950
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)
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.3696+12T>A
NM_153240.5(NPHP3):c.3696+14T>G
NM_153240.5(NPHP3):c.3696_3696+3del
NM_153240.5(NPHP3):c.3697-11T>C
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-13T>G rs1939067140
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.3697-16C>A rs2107961469
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.3697-7del rs564013823
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.3726T>A (p.Tyr1242Ter)
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.3787del (p.Thr1263fs) rs2107961294
NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
NM_153240.5(NPHP3):c.3812+16_3812+17del
NM_153240.5(NPHP3):c.3812+1G>T rs1459151671
NM_153240.5(NPHP3):c.3812+4A>T
NM_153240.5(NPHP3):c.3813-12TC[2]
NM_153240.5(NPHP3):c.3813-12del rs2107960657
NM_153240.5(NPHP3):c.3813-18_3813-17del
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.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.3846A>G (p.Glu1282=)
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.3891C>T (p.Leu1297=) rs1436695205
NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)
NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln) rs2108007468
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
NM_153240.5(NPHP3):c.393+16G>T
NM_153240.5(NPHP3):c.393+19G>A
NM_153240.5(NPHP3):c.393+20C>G
NM_153240.5(NPHP3):c.393+7C>T
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
NM_153240.5(NPHP3):c.394-17_394-15del rs766909353
NM_153240.5(NPHP3):c.394-20A>G
NM_153240.5(NPHP3):c.394-35_394-20del rs771153447
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.396A>T (p.Ala132=)
NM_153240.5(NPHP3):c.402A>G (p.Gln134=) rs2108003851
NM_153240.5(NPHP3):c.403A>G (p.Lys135Glu) rs2108003849
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys) rs761435204
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly) rs1576688460
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.436del (p.Ser146fs) rs1940156340
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys) rs1940155952
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
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.474A>G (p.Ala158=) rs758512712
NM_153240.5(NPHP3):c.502G>A (p.Val168Ile)
NM_153240.5(NPHP3):c.519+11del rs2108003644
NM_153240.5(NPHP3):c.519+13C>A
NM_153240.5(NPHP3):c.519+13C>T
NM_153240.5(NPHP3):c.520-10C>A rs200144727
NM_153240.5(NPHP3):c.520-13A>G
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
NM_153240.5(NPHP3):c.561G>A (p.Leu187=) rs1194475374
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
NM_153240.5(NPHP3):c.576G>A (p.Glu192=)
NM_153240.5(NPHP3):c.577T>C (p.Leu193=)
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.627T>C (p.Asp209=) rs2108002787
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
NM_153240.5(NPHP3):c.633G>A (p.Gly211=)
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
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.666C>T (p.Val222=) rs2108002721
NM_153240.5(NPHP3):c.670+10_670+11insGG
NM_153240.5(NPHP3):c.670+13C>A
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.670+14del
NM_153240.5(NPHP3):c.670+19dup
NM_153240.5(NPHP3):c.670+9A>G rs2108002703
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs) rs1349623728
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.777C>T (p.Ala259=) rs1384613347
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.819T>C (p.Asn273=) rs2108000058
NM_153240.5(NPHP3):c.824-15A>T
NM_153240.5(NPHP3):c.824-8A>G
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+14T>G
NM_153240.5(NPHP3):c.957+16_957+24del
NM_153240.5(NPHP3):c.957+18T>C
NM_153240.5(NPHP3):c.957+6G>A
NM_153240.5(NPHP3):c.958-4T>C rs2107996443
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala) rs113091599
NM_153240.5(NPHP3):c.993A>G (p.Thr331=) rs1939961664

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