ClinVar Miner

List of variants in gene NPHP4 studied for Senior-Loken syndrome 4

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NM_015102.5(NPHP4):c.*128A>C rs116747881
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*285G>A
NM_015102.5(NPHP4):c.*314T>G rs111874674
NM_015102.5(NPHP4):c.*87C>G
NM_015102.5(NPHP4):c.*97T>A
NM_015102.5(NPHP4):c.-202C>T rs145074678
NM_015102.5(NPHP4):c.-206C>A rs539173372
NM_015102.5(NPHP4):c.-52G>T rs886046468
NM_015102.5(NPHP4):c.-90A>T rs527962872
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly)
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560
NM_015102.5(NPHP4):c.1120-13G>T rs192450719
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala)
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105
NM_015102.5(NPHP4):c.135+15T>C
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg)
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843
NM_015102.5(NPHP4):c.1441+13A>G rs7520105
NM_015102.5(NPHP4):c.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro)
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705
NM_015102.5(NPHP4):c.1503+10G>A rs41307782
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155
NM_015102.5(NPHP4):c.1611+9C>T rs114900019
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.5(NPHP4):c.1764-5C>T rs370899989
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
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.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006
NM_015102.5(NPHP4):c.2304+5C>T
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys)
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys)
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser)
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675
NM_015102.5(NPHP4):c.2485+9C>A rs200952409
NM_015102.5(NPHP4):c.2490C>T (p.His830=)
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=)
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu)
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp)
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603
NM_015102.5(NPHP4):c.279+11G>A rs113902159
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln)
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3045-5C>T rs2297790
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg)
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939
NM_015102.5(NPHP4):c.3231+5G>A rs886046460
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717
NM_015102.5(NPHP4):c.3645-15C>T rs558429618
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val)
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412
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.3777G>A (p.Arg1259=) rs369566680
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357
NM_015102.5(NPHP4):c.4141-11C>T rs139203183
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213

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