ClinVar Miner

List of variants in gene NPHP4 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2817+62A>G rs1622955 0.92259
NM_015102.5(NPHP4):c.993-156G>A rs551207 0.85251
NM_015102.5(NPHP4):c.2818-2= rs1217117155 0.84829
NM_015102.5(NPHP4):c.136-110C>G rs4908639 0.84357
NM_015102.5(NPHP4):c.1956-127A>G rs3737234 0.83973
NM_015102.5(NPHP4):c.2612-33G>A rs3747989 0.83595
NM_015102.5(NPHP4):c.517+192G>T rs875574 0.66081
NM_015102.5(NPHP4):c.3231+41T>C rs868163 0.64813
NM_015102.5(NPHP4):c.517+107T>C rs875573 0.63893
NM_015102.5(NPHP4):c.4140+162A>C rs11121648 0.57251
NM_015102.5(NPHP4):c.993-184C>T rs10779677 0.52481
NM_015102.5(NPHP4):c.3044+97G>A rs1287638 0.52403
NM_015102.5(NPHP4):c.2818-62A>G rs963030 0.44157
NM_015102.5(NPHP4):c.-38-45G>C rs1295111 0.41599
NM_015102.5(NPHP4):c.1955+173T>C rs11122125 0.39381
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.2818-241G>A rs959240 0.36481
NM_015102.5(NPHP4):c.2818-235dup rs544208468 0.36039
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_015102.5(NPHP4):c.3645-38C>T rs1287634 0.34998
NM_015102.5(NPHP4):c.3231+31A>G rs905467 0.20383
NM_015102.5(NPHP4):c.280-216A>G rs2275231 0.17593
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_015102.5(NPHP4):c.673+150A>G rs61762129 0.15699
NM_015102.5(NPHP4):c.3472+62C>T rs2297791 0.13268
NM_015102.5(NPHP4):c.3558+59T>C rs12122135 0.12729
NM_015102.5(NPHP4):c.674-233C>T rs35471669 0.12629
NM_015102.5(NPHP4):c.3816+122C>T rs11121682 0.12193
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.2485+38C>T rs41280814 0.11752
NM_015102.5(NPHP4):c.2485+129C>G rs41280812 0.11747
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_015102.5(NPHP4):c.3232-135T>C rs905469 0.09135
NM_015102.5(NPHP4):c.3316-177G>A rs78598342 0.05253
NM_015102.5(NPHP4):c.3996+128A>G rs12117328 0.05211
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.453-170C>T rs75504751 0.04582
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_015102.5(NPHP4):c.3817-149T>G rs114555857 0.04345
NM_015102.5(NPHP4):c.1303-131T>C rs17432975 0.04108
NM_015102.5(NPHP4):c.3559-140C>T rs114968327 0.03291
NM_015102.5(NPHP4):c.136-224G>C rs114368032 0.03173
NM_015102.5(NPHP4):c.3817-162G>A rs11805141 0.03161
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_015102.5(NPHP4):c.3645-180G>A rs114724221 0.02538
NM_015102.5(NPHP4):c.3044+47G>A rs12135056 0.02412
NM_015102.5(NPHP4):c.2304+98A>G rs12081133 0.02405
NM_015102.5(NPHP4):c.1442-189T>C rs72857418 0.02273
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_015102.5(NPHP4):c.3231+107C>T rs72856177 0.02031
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_015102.5(NPHP4):c.3559-87G>A rs72856175 0.02014
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_015102.5(NPHP4):c.279+47T>G rs115690090 0.01612
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_015102.5(NPHP4):c.993-56C>T rs182466746 0.00787
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418 0.00460
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_015102.5(NPHP4):c.3559-19del rs201335783 0.00292
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_015102.5(NPHP4):c.453-27G>A rs200754878 0.00235
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_015102.5(NPHP4):c.945G>A (p.Thr315=) rs115272639 0.00113
NM_015102.5(NPHP4):c.3232-12C>T rs370840400 0.00101
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439 0.00064
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_015102.5(NPHP4):c.3145C>T (p.Pro1049Ser) rs759609852 0.00022
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.3044+20C>T rs372051668 0.00019
NM_015102.5(NPHP4):c.2445G>A (p.Ser815=) rs764367617 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.3817-20C>T rs573999865 0.00016
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.122C>T (p.Pro41Leu) rs754311690 0.00011
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_015102.5(NPHP4):c.1120-9T>A rs570380438 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.2886G>A (p.Thr962=) rs368320071 0.00004
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1503+17dup rs756154468
NM_015102.5(NPHP4):c.1503+73C>T rs116830098
NM_015102.5(NPHP4):c.1611+111C>A rs9628990
NM_015102.5(NPHP4):c.2612-55T>G rs3747988
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3559-64del rs35241273
NM_015102.5(NPHP4):c.3817-169A>G rs1287635
NM_015102.5(NPHP4):c.3997-12del rs1325812736
NM_015102.5(NPHP4):c.4140+11dup rs779059295
NM_015102.5(NPHP4):c.4141-32G>A
NM_015102.5(NPHP4):c.452+60del rs34702999
NM_015102.5(NPHP4):c.453-127G>A rs12084942
NM_015102.5(NPHP4):c.992+195del rs147579829

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