ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
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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.3759G>A (p.Leu1253=) rs6794496 0.13621
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.2610G>A (p.Pro870=) rs16839515 0.04323
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.2571-7T>C rs62292468 0.02974
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.864T>A (p.Thr288=) rs147932449 0.01825
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.2693+17A>G rs200046908 0.00212
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.2883+13G>C rs112375565 0.00122
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 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.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.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 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.1629-17C>A rs145056102 0.00024
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 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.2931A>G (p.Leu977=) rs146316936 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.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.2531A>G (p.Tyr844Cys) rs752254827 0.00003
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu) rs768124745 0.00003
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 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.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 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.3226C>T (p.Arg1076Trp) rs553665584 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 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.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 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.1145C>A (p.Ala382Asp)
NM_153240.5(NPHP3):c.1276-271G>A rs9842176
NM_153240.5(NPHP3):c.1276-283A>G rs149755457
NM_153240.5(NPHP3):c.1351-259A>G rs145204463
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1550T>C (p.Val517Ala)
NM_153240.5(NPHP3):c.1642C>G (p.Gln548Glu)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
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.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.2476-72T>C rs2271491
NM_153240.5(NPHP3):c.2693+295G>A rs74660833
NM_153240.5(NPHP3):c.3094G>A (p.Ala1032Thr)
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-4del rs398124547
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.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.3697-7del rs564013823
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3776G>A (p.Arg1259Gln)
NM_153240.5(NPHP3):c.393+200G>T rs371795990
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.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs) rs1553775392
NM_153240.5(NPHP3):c.824-125A>T rs115124403
NM_153240.5(NPHP3):c.824-94A>G rs17414558
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779

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