ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_153240.4(NPHP3):c.1525-5delT rs762115717
NM_153240.4(NPHP3):c.3697-11_3697-7delTTTTT rs564013823
NM_153240.5(NPHP3):c.1037A>C (p.Glu346Ala) rs794727812
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
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.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.151_152delinsTT (p.Ala51Leu) rs1553775776
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=)
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549
NM_153240.5(NPHP3):c.1538T>C (p.Leu513Pro) rs1057520193
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.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
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.1887+1G>A rs1560008103
NM_153240.5(NPHP3):c.1887+2T>A rs1560008096
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1986-7A>G rs373733344
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.2311-6A>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.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.2593A>C (p.Ser865Arg)
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.2692A>G (p.Arg898Gly) rs1560003115
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile)
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430
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.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.3100G>A (p.Ala1034Thr) rs1553772162
NM_153240.5(NPHP3):c.3120A>G (p.Gln1040=) rs1188495543
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.312C>G (p.Ser104Arg) rs1448465565
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.3422T>C (p.Leu1141Pro) rs1057521090
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.3504A>G (p.Ala1168=)
NM_153240.5(NPHP3):c.3553A>G (p.Ile1185Val) rs1559999966
NM_153240.5(NPHP3):c.3570+4A>G rs374989123
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844
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.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.3739A>T (p.Lys1247Ter) rs1559999153
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.3837dup (p.Ala1280fs) rs1559998795
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.3934del (p.Thr1312fs) rs1559998693
NM_153240.5(NPHP3):c.3936G>A (p.Thr1312=) rs754601686
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del)
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.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.408G>C (p.Thr136=) rs141410951
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.590T>G (p.Leu197Arg)
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
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.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)

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