ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.5(NPHP3):c.*1020T>C rs186828918
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G
NM_153240.5(NPHP3):c.*1098C>T rs886057995
NM_153240.5(NPHP3):c.*1121A>G rs576904017
NM_153240.5(NPHP3):c.*1176G>A rs183658380
NM_153240.5(NPHP3):c.*1184A>T
NM_153240.5(NPHP3):c.*1188A>G
NM_153240.5(NPHP3):c.*1213T>C rs886057994
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*139T>G rs886058001
NM_153240.5(NPHP3):c.*141T>C
NM_153240.5(NPHP3):c.*178T>G
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*351A>T
NM_153240.5(NPHP3):c.*437C>T
NM_153240.5(NPHP3):c.*46A>G rs530016526
NM_153240.5(NPHP3):c.*519C>T rs3891704
NM_153240.5(NPHP3):c.*626C>G
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.*692C>T rs886057997
NM_153240.5(NPHP3):c.*759G>A rs116338839
NM_153240.5(NPHP3):c.*784C>T rs376015619
NM_153240.5(NPHP3):c.*815G>A rs141464909
NM_153240.5(NPHP3):c.*852C>A
NM_153240.5(NPHP3):c.*926C>T
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu)
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.1118+11A>C
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.1189C>T (p.Arg397Cys) rs141477666
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly) rs773520877
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met)
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val)
NM_153240.5(NPHP3):c.1524+11G>T
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.152C>T (p.Ala51Val)
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.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.160G>A (p.Gly54Arg) rs1054438148
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.1706C>A (p.Ser569Ter) rs1240851280
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg)
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met)
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg) rs753458157
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val) rs145166784
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)
NM_153240.5(NPHP3):c.1986G>C (p.Arg662Ser)
NM_153240.5(NPHP3):c.2060C>T (p.Ser687Phe)
NM_153240.5(NPHP3):c.2089-9C>T rs141397228
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu)
NM_153240.5(NPHP3):c.2269G>C (p.Glu757Gln)
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe) rs1060503157
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys)
NM_153240.5(NPHP3):c.2571-12C>G rs886058003
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2694-2del rs1560002537
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.2770G>A (p.Asp924Asn)
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr)
NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys) rs1007066273
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys) rs1553775714
NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn) rs1060503156
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3126-3A>C
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg)
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053
NM_153240.5(NPHP3):c.326_328TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala) rs758927671
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro)
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup)
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066
NM_153240.5(NPHP3):c.3570+4A>G rs374989123
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg)
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-7T>A
NM_153240.5(NPHP3):c.3697-9T>G
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.384C>G (p.Ala128=) rs201425936
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys)
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)
NM_153240.5(NPHP3):c.520-10C>G rs200144727
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.625G>A (p.Asp209Asn)
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.670+6T>C rs190074663
NM_153240.5(NPHP3):c.671-996C>G
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439
NM_153240.5(NPHP3):c.767C>T (p.Pro256Leu)
NM_153240.5(NPHP3):c.783T>G (p.Ser261Arg)
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile)
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564

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