ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3812+126C>T rs6792074 0.41528
NM_153240.5(NPHP3):c.2172-132T>G rs10804612 0.40031
NM_153240.5(NPHP3):c.671-70G>A rs11718115 0.38727
NM_153240.5(NPHP3):c.519+248A>G rs3860503 0.21326
NM_153240.5(NPHP3):c.394-45A>G rs12631786 0.19778
NM_153240.5(NPHP3):c.520-111G>A rs3860502 0.19179
NM_153240.5(NPHP3):c.823+69G>A rs67092166 0.17979
NM_153240.5(NPHP3):c.1118+257G>A rs1479103 0.17968
NM_153240.5(NPHP3):c.671-118T>C rs72628561 0.14562
NM_153240.5(NPHP3):c.2172-187A>G rs10935028 0.12103
NM_153240.5(NPHP3):c.3812+290T>C rs11925495 0.09215
NM_153240.5(NPHP3):c.2476-84A>G rs2271490 0.09160
NM_153240.5(NPHP3):c.2571-103G>T rs62292469 0.09060
NM_153240.5(NPHP3):c.1276-122T>C rs3860501 0.08681
NM_153240.5(NPHP3):c.2172-78G>A rs79047540 0.07434
NM_153240.5(NPHP3):c.2089-194C>G rs77577514 0.07429
NM_153240.5(NPHP3):c.2171+151A>G rs76177059 0.06173
NM_153240.5(NPHP3):c.824-89A>G rs6765919 0.05850
NM_153240.5(NPHP3):c.1525-128dup rs145823343 0.05351
NM_153240.5(NPHP3):c.3697-151C>G rs73220112 0.04433
NM_153240.5(NPHP3):c.3202-106A>G rs73002503 0.04347
NM_153240.5(NPHP3):c.1628+300_1628+301dup rs144360134 0.03923
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_153240.5(NPHP3):c.3812+117T>C rs74504982 0.03053
NM_153240.5(NPHP3):c.1350+120G>A rs79953884 0.02530
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.1276-117del rs200243213 0.02515
NM_153240.5(NPHP3):c.1525-316A>G rs11717312 0.02368
NM_153240.5(NPHP3):c.1525-313A>G rs11717311 0.02349
NM_153240.5(NPHP3):c.1351-228T>G rs73863711 0.01844
NM_153240.5(NPHP3):c.1743+27C>G rs73863710 0.01775
NM_153240.5(NPHP3):c.1744-99T>C rs73863708 0.01773
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1985+268C>T rs146400879 0.01641
NM_153240.5(NPHP3):c.958-100T>A rs142676203 0.01630
NM_153240.5(NPHP3):c.1119-246A>G rs6808655 0.01572
NM_153240.5(NPHP3):c.3125+189A>G rs116435384 0.01500
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.3126-276A>G rs112490511 0.01464
NM_153240.5(NPHP3):c.394-162A>G rs115177380 0.01049
NM_153240.5(NPHP3):c.671-144G>A rs113913792 0.00983
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.2476-262T>C rs115958195 0.00845
NM_153240.5(NPHP3):c.1525-211A>G rs11925789 0.00815
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.823+240T>A rs112706691 0.00710
NM_153240.5(NPHP3):c.2693+115A>G rs115547293 0.00701
NM_153240.5(NPHP3):c.1628+116A>T rs77904309 0.00694
NM_153240.5(NPHP3):c.2693+130A>G rs114883280 0.00665
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.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_153240.5(NPHP3):c.3570+181T>C rs115163664 0.00580
NM_153240.5(NPHP3):c.958-84G>A rs113466095 0.00567
NM_153240.5(NPHP3):c.2475+280A>G rs80257489 0.00505
NM_153240.5(NPHP3):c.671-270C>T rs111837543 0.00490
NM_153240.5(NPHP3):c.2475+309A>G rs114968439 0.00438
NM_153240.5(NPHP3):c.2693+233A>G rs148943799 0.00432
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.3202-100T>C rs188942737 0.00354
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_153240.5(NPHP3):c.1887+176C>T rs150621470 0.00331
NM_153240.5(NPHP3):c.393+127C>T rs140110227 0.00328
NM_153240.5(NPHP3):c.2883+60T>C rs190629977 0.00304
NM_153240.5(NPHP3):c.2172-65del rs138214501 0.00273
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.3189A>G (p.Lys1063=) rs112386774 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.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.944A>T (p.Asp315Val) rs149565564 0.00017
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.-49G>A rs28460105 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694 0.00010
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.3592C>T (p.Pro1198Ser) rs550670844 0.00008
NM_153240.5(NPHP3):c.519+36A>G rs201559488 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 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.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.958-2A>G rs780148543 0.00006
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=) rs1025642403 0.00005
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=) rs139351534 0.00005
NM_153240.5(NPHP3):c.894C>T (p.Asn298=) rs988823074 0.00005
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 0.00004
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.2531A>G (p.Tyr844Cys) rs752254827 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.3901A>C (p.Lys1301Gln) rs769027723 0.00003
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys) rs748615630 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.1714T>G (p.Ser572Ala) rs781274734 0.00002
NM_153240.5(NPHP3):c.1986-7A>G rs373733344 0.00002
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr) rs770302939 0.00002
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=) rs780587933 0.00002
NM_153240.5(NPHP3):c.2344G>A (p.Val782Met) rs754886284 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2371T>C (p.Tyr791His) rs1238783621 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.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016 0.00002
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu) rs747256150 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1437T>C (p.Asp479=) rs768626164 0.00001
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu) rs756807243 0.00001
NM_153240.5(NPHP3):c.1472del (p.Met491fs) rs1215965777 0.00001
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser) rs373846495 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.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2197A>G (p.Lys733Glu) rs150593334 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.2593A>C (p.Ser865Arg) rs764310559 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 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.2T>C (p.Met1Thr) rs886041990 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.312C>G (p.Ser104Arg) rs1448465565 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.3287T>C (p.Leu1096Pro) rs777276873 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.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3432A>G (p.Leu1144=) rs764978219 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.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3936G>A (p.Thr1312=) rs754601686 0.00001
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg) rs757401076 0.00001
NM_153240.5(NPHP3):c.657T>C (p.Cys219=) rs200533815 0.00001
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439 0.00001
NM_153240.5(NPHP3):c.801A>T (p.Gly267=) rs763333048 0.00001
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*651del rs886058000
NM_153240.5(NPHP3):c.*651dup rs886058000
NM_153240.5(NPHP3):c.*673C>G
NM_153240.5(NPHP3):c.-3G>T
NM_153240.5(NPHP3):c.1007dup (p.His337fs) rs1576682959
NM_153240.5(NPHP3):c.1037A>C (p.Glu346Ala) rs794727812
NM_153240.5(NPHP3):c.1056A>T (p.Val352=) rs2107996320
NM_153240.5(NPHP3):c.1085T>C (p.Leu362Ser)
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1145C>A (p.Ala382Asp)
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn) rs753749299
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1276-271G>A rs9842176
NM_153240.5(NPHP3):c.1276-283A>G rs149755457
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1351-259A>G rs145204463
NM_153240.5(NPHP3):c.1433G>A (p.Gly478Asp) rs776483073
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=) rs368126549
NM_153240.5(NPHP3):c.1538T>C (p.Leu513Pro) rs1057520193
NM_153240.5(NPHP3):c.1548A>G (p.Leu516=) rs1453032510
NM_153240.5(NPHP3):c.1550T>C (p.Val517Ala)
NM_153240.5(NPHP3):c.1628+9C>A rs1199591337
NM_153240.5(NPHP3):c.1642C>G (p.Gln548Glu)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1887+1G>A rs1560008103
NM_153240.5(NPHP3):c.1887+2T>A rs1560008096
NM_153240.5(NPHP3):c.1888-2A>G rs886921615
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.1986-165_1986-164insTGAG rs10670383
NM_153240.5(NPHP3):c.2098C>G (p.Leu700Val)
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln) rs889394540
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2172-66C>T rs12633369
NM_153240.5(NPHP3):c.2258A>G (p.His753Arg) rs1939405994
NM_153240.5(NPHP3):c.2310+27del
NM_153240.5(NPHP3):c.2311-6A>C rs769918347
NM_153240.5(NPHP3):c.2327A>G (p.Asn776Ser) rs1553772603
NM_153240.5(NPHP3):c.2476-72T>C rs2271491
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
NM_153240.5(NPHP3):c.2571-3T>C rs886043424
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr) rs886044248
NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly) rs1560003115
NM_153240.5(NPHP3):c.2693+295G>A rs74660833
NM_153240.5(NPHP3):c.2938G>A (p.Asp980Asn) rs1203856291
NM_153240.5(NPHP3):c.2992T>C (p.Trp998Arg)
NM_153240.5(NPHP3):c.2994G>A (p.Trp998Ter) rs794727349
NM_153240.5(NPHP3):c.3020T>G (p.Leu1007Arg)
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.3079G>T (p.Ala1027Ser) rs1560002025
NM_153240.5(NPHP3):c.3094G>A (p.Ala1032Thr)
NM_153240.5(NPHP3):c.3100G>A (p.Ala1034Thr) rs1553772162
NM_153240.5(NPHP3):c.3120A>G (p.Gln1040=) rs1188495543
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
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.3329+198dup rs374302036
NM_153240.5(NPHP3):c.3330-3C>T
NM_153240.5(NPHP3):c.3345dup (p.Leu1116fs) rs1553771818
NM_153240.5(NPHP3):c.3553A>G (p.Ile1185Val) rs1559999966
NM_153240.5(NPHP3):c.3570+2T>A rs1553771772
NM_153240.5(NPHP3):c.3571-112dup rs200443262
NM_153240.5(NPHP3):c.3571-73_3571-70del rs201862851
NM_153240.5(NPHP3):c.3627A>C (p.Lys1209Asn) rs1163759024
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.370A>G (p.Lys124Glu) rs1553775689
NM_153240.5(NPHP3):c.3739A>T (p.Lys1247Ter) rs1559999153
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3776G>A (p.Arg1259Gln)
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3812+9T>C rs1559999088
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs) rs1559998795
NM_153240.5(NPHP3):c.3863T>C (p.Met1288Thr) rs1559998774
NM_153240.5(NPHP3):c.393+200G>T rs371795990
NM_153240.5(NPHP3):c.393+7C>G rs764568785
NM_153240.5(NPHP3):c.3934del (p.Thr1312fs) rs1559998693
NM_153240.5(NPHP3):c.394-89AT[6] rs10590809
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_153240.5(NPHP3):c.394-89AT[9] rs10590809
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.39G>A (p.Gly13=) rs1560019398
NM_153240.5(NPHP3):c.406A>C (p.Thr136Pro) rs1553775408
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.408G>C (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs) rs1553775392
NM_153240.5(NPHP3):c.460G>C (p.Ala154Pro) rs1553775398
NM_153240.5(NPHP3):c.515T>C (p.Phe172Ser) rs886043761
NM_153240.5(NPHP3):c.518A>G (p.Lys173Arg) rs794727311
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.767C>G (p.Pro256Arg)
NM_153240.5(NPHP3):c.824-125A>T rs115124403
NM_153240.5(NPHP3):c.824-94A>G rs17414558
NM_153240.5(NPHP3):c.831G>T (p.Trp277Cys) rs1560015344
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala) rs774133053
NM_153240.5(NPHP3):c.892A>T (p.Asn298Tyr) rs886043651
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.929C>A (p.Thr310Asn) rs1553774955
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779

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