ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP
NM_153240.4(NPHP3):c.1888-7_1893delTTTTAAGCAAGTT rs1553773296
NM_153240.5(NPHP3):c.1037A>C (p.Glu346Ala) rs794727812
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys)
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu)
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn) rs753749299
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val) rs764000635
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
NM_153240.5(NPHP3):c.1433G>A (p.Gly478Asp) rs776483073
NM_153240.5(NPHP3):c.1437T>C (p.Asp479=) rs768626164
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu) rs756807243
NM_153240.5(NPHP3):c.1472del (p.Met491fs) rs1215965777
NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu) rs1553775776
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=)
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.155_157CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly)
NM_153240.5(NPHP3):c.1628+9C>A rs1199591337
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser)
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962
NM_153240.5(NPHP3):c.1738C>G (p.Leu580Val) rs1399616263
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1888-2A>G
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1986-7A>G rs373733344
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln) rs889394540
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr)
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2172-4A>G rs375032661
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=)
NM_153240.5(NPHP3):c.2197A>G (p.Lys733Glu)
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=) rs767339363
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264
NM_153240.5(NPHP3):c.2311-6A>C
NM_153240.5(NPHP3):c.2327A>G (p.Asn776Ser) rs1553772603
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.2344G>A (p.Val782Met) rs754886284
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153240.5(NPHP3):c.2371T>C (p.Tyr791His) rs1238783621
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=) rs1025642403
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745
NM_153240.5(NPHP3):c.245C>A (p.Pro82Gln) rs886044434
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2571-3T>C rs886043424
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.2593A>C (p.Ser865Arg)
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser) rs1233421790
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr) rs886044248
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile)
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp)
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)
NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys)
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.2938G>A (p.Asp980Asn) rs1203856291
NM_153240.5(NPHP3):c.2948G>A (p.Arg983Lys)
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534
NM_153240.5(NPHP3):c.2994G>A (p.Trp998Ter) rs794727349
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp) rs146097715
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618
NM_153240.5(NPHP3):c.3079G>T (p.Ala1027Ser) rs1560002025
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
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.3126-4del rs398124547
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.312C>G (p.Ser104Arg) rs1448465565
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=) rs139351534
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala)
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys)
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787
NM_153240.5(NPHP3):c.3353G>A (p.Arg1118His)
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001
NM_153240.5(NPHP3):c.3493C>T (p.Arg1165Trp) rs1330141890
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3553A>G (p.Ile1185Val) rs1559999966
NM_153240.5(NPHP3):c.3570+2T>A rs1553771772
NM_153240.5(NPHP3):c.3570+4A>G rs374989123
NM_153240.5(NPHP3):c.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.370A>G (p.Lys124Glu) rs1553775689
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3812+9T>C rs1559999088
NM_153240.5(NPHP3):c.3863T>C (p.Met1288Thr) rs1559998774
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln)
NM_153240.5(NPHP3):c.393+7C>G rs764568785
NM_153240.5(NPHP3):c.3936G>A (p.Thr1312=) rs754601686
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del)
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
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>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.408G>C (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.430_433AAAG[1] (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
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.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg)
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.63G>A (p.Gly21=)
NM_153240.5(NPHP3):c.657T>C (p.Cys219=) rs200533815
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363
NM_153240.5(NPHP3):c.670+6T>C rs190074663
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.801A>T (p.Gly267=)
NM_153240.5(NPHP3):c.81C>T (p.Ala27=) rs201255331
NM_153240.5(NPHP3):c.831G>T (p.Trp277Cys) rs1560015344
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala)
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp) rs951093397
NM_153240.5(NPHP3):c.892A>T (p.Asn298Tyr) rs886043651
NM_153240.5(NPHP3):c.894C>T (p.Asn298=) rs988823074
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.944A>T (p.Asp315Val) rs149565564
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.