ClinVar Miner

List of variants in gene NPHP3, NPHP3-ACAD11 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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.-69A>G rs13099099
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.4(NPHP3):c.1525-5delT rs762115717
NM_153240.4(NPHP3):c.3125+12dupT rs11396595
NM_153240.4(NPHP3):c.3126-4delT rs398124547
NM_153240.4(NPHP3):c.3126-4dupT rs398124547
NM_153240.4(NPHP3):c.3697-11_3697-7delTTTTT rs564013823
NM_153240.4(NPHP3):c.3697-7delT rs564013823
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.*1020T>C rs186828918
NM_153240.5(NPHP3):c.*1078T>G rs886057996
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.*1213T>C rs886057994
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*139T>G rs886058001
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*46A>G rs530016526
NM_153240.5(NPHP3):c.*519C>T rs3891704
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.*657C>T rs79224795
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.*785G>A rs6774366
NM_153240.5(NPHP3):c.*815G>A rs141464909
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr) rs119456960
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
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.1174C>T (p.Arg392Ter) rs1485445500
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.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly) rs773520877
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
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.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg) rs753458157
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val)
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1985+5G>A
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
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.2104C>T (p.Arg702Ter) rs267606916
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
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.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
NM_153240.5(NPHP3):c.2571-12C>G rs886058003
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
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.2694-2del rs1560002537
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln) rs119456963
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys) rs1553775714
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
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.3093A>G (p.Glu1031=) rs112300370
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
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.3299G>C (p.Gly1100Ala)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys)
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813
NM_153240.5(NPHP3):c.3340C>T (p.Gln1114Ter) rs119456964
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro)
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776
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.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3608del (p.Ala1203fs) rs1060499938
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
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.3821_3823GAG[1] (p.Gly1275del) rs119456959
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.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.520-10C>G rs200144727
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) rs773521620
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
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.686G>A (p.Cys229Tyr) rs1424177439
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695

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