ClinVar Miner

List of variants studied for Nephronophthisis 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
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.2219G>A (p.Arg740His) rs34248917 0.02256
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
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.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.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.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.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.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
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.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 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.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798 0.00068
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
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.2230G>A (p.Val744Met) rs199712626 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015102.5(NPHP4):c.-202C>T rs145074678 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_015102.5(NPHP4):c.-52G>T rs886046468 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.-206C>A rs539173372 0.00001
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) rs1226725565 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 0.00001
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467

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