ClinVar Miner

List of variants in gene NPHP4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 442
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HGVS dbSNP
NM_015102.4(NPHP4):c.-225G>A rs886046469
NM_015102.4(NPHP4):c.-235G>A rs765435500
NM_015102.4(NPHP4):c.-236C>T rs185912310
NM_015102.4(NPHP4):c.-237G>C rs867788720
NM_015102.4(NPHP4):c.1120-13_1120-9delGTTTT rs1553180077
NM_015102.4(NPHP4):c.136-4delC rs143323188
NM_015102.5(NPHP4):c.*128A>C rs116747881
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*314T>G rs111874674
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.-8C>T
NM_015102.5(NPHP4):c.-90A>T rs527962872
NM_015102.5(NPHP4):c.1005A>G (p.Gln335=) rs398124287
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro)
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe)
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His)
NM_015102.5(NPHP4):c.1030C>T (p.Arg344Cys) rs777428281
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly) rs1557804355
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser) rs377155892
NM_015102.5(NPHP4):c.1050C>T (p.Gly350=) rs1367350631
NM_015102.5(NPHP4):c.105C>A (p.Leu35=) rs1259706450
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051
NM_015102.5(NPHP4):c.1079T>C (p.Leu360Pro) rs794727973
NM_015102.5(NPHP4):c.1087G>A (p.Val363Met)
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560
NM_015102.5(NPHP4):c.1118A>G (p.Asn373Ser) rs556579725
NM_015102.5(NPHP4):c.1120-13G>T rs192450719
NM_015102.5(NPHP4):c.1120-9T>A
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs) rs1557768696
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.1204T>A (p.Ser402Thr) rs886043608
NM_015102.5(NPHP4):c.1210A>G (p.Arg404Gly) rs1557768242
NM_015102.5(NPHP4):c.1236G>T (p.Gly412=) rs1557768045
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr) rs202199543
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.1331G>A (p.Arg444Gln) rs202179978
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
NM_015102.5(NPHP4):c.135+7A>G
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1366dup (p.Asp456fs) rs1557755692
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898
NM_015102.5(NPHP4):c.1387A>G (p.Ser463Gly) rs1557755510
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164
NM_015102.5(NPHP4):c.1393C>T (p.Pro465Ser)
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.1418G>T (p.Arg473Met) rs754829412
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met) rs886043364
NM_015102.5(NPHP4):c.1437T>A (p.Pro479=)
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) rs374690894
NM_015102.5(NPHP4):c.1441+13A>G rs7520105
NM_015102.5(NPHP4):c.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.1442-8C>T
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083
NM_015102.5(NPHP4):c.1446G>A (p.Pro482=) rs758600868
NM_015102.5(NPHP4):c.1455A>C (p.Pro485=)
NM_015102.5(NPHP4):c.1462C>G (p.Arg488Gly) rs778043242
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092
NM_015102.5(NPHP4):c.1503+10G>A rs41307782
NM_015102.5(NPHP4):c.1527C>A (p.Ala509=)
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1533G>A (p.Pro511=) rs775251652
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu)
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155
NM_015102.5(NPHP4):c.1557G>A (p.Leu519=) rs1557704555
NM_015102.5(NPHP4):c.1571C>T (p.Ser524Leu) rs1268005672
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)
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.1653C>T (p.Ala551=)
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095
NM_015102.5(NPHP4):c.1695C>T (p.Ala565=) rs773050903
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.5(NPHP4):c.1715C>T (p.Pro572Leu)
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro) rs1557700541
NM_015102.5(NPHP4):c.1740_1742TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1764-5C>T rs370899989
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117
NM_015102.5(NPHP4):c.1775A>G (p.Gln592Arg)
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_015102.5(NPHP4):c.1858G>A (p.Val620Ile) rs1557699298
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met)
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.18G>T (p.Arg6Ser) rs1557896510
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.1927A>G (p.Met643Val) rs371464727
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274
NM_015102.5(NPHP4):c.1952G>A (p.Ser651Asn) rs1557698712
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.1985G>A (p.Trp662Ter) rs1557697311
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His) rs375416303
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.202C>A (p.Arg68=) rs771873685
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp)
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr) rs368101076
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2035A>G (p.Thr679Ala) rs201642456
NM_015102.5(NPHP4):c.203G>A (p.Arg68Gln)
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.5(NPHP4):c.2045G>A (p.Arg682Gln)
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197
NM_015102.5(NPHP4):c.2071_2079dup (p.Ala691_Gln693dup) rs1557696494
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val) rs745698836
NM_015102.5(NPHP4):c.2109C>T (p.Leu703=) rs373182062
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631
NM_015102.5(NPHP4):c.2170A>G (p.Met724Val)
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.221C>T (p.Thr74Met)
NM_015102.5(NPHP4):c.222G>A (p.Thr74=) rs768099247
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile)
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.2289T>C (p.Ala763=) rs1161995349
NM_015102.5(NPHP4):c.228A>G (p.Lys76=)
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
NM_015102.5(NPHP4):c.2327C>G (p.Pro776Arg) rs201527181
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.5(NPHP4):c.2346C>T (p.His782=) rs1433852047
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter) rs137852918
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315
NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) rs371429952
NM_015102.5(NPHP4):c.2433C>T (p.Ile811=)
NM_015102.5(NPHP4):c.2436C>T (p.Gly812=) rs376696627
NM_015102.5(NPHP4):c.2437G>A (p.Val813Ile)
NM_015102.5(NPHP4):c.2453A>G (p.Lys818Arg)
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675
NM_015102.5(NPHP4):c.2465A>G (p.His822Arg) rs794727210
NM_015102.5(NPHP4):c.2485+38C>T rs41280814
NM_015102.5(NPHP4):c.2485+9C>A
NM_015102.5(NPHP4):c.2510G>A (p.Arg837Lys) rs794727229
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.5(NPHP4):c.2543G>A (p.Arg848Gln) rs398124288
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048
NM_015102.5(NPHP4):c.2556C>T (p.Asn852=)
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys) rs372688518
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215
NM_015102.5(NPHP4):c.2611+1G>A
NM_015102.5(NPHP4):c.2612-33G>A rs3747989
NM_015102.5(NPHP4):c.2612-5C>T
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met) rs571204647
NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys) rs886044065
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.2646C>T (p.Asp882=)
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221
NM_015102.5(NPHP4):c.2647_2653delinsATGGACC (p.Val883_Ser885delinsMetAspArg) rs886044677
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479
NM_015102.5(NPHP4):c.2687G>A (p.Arg896Gln) rs372438267
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.2714G>A (p.Ser905Asn)
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.2724G>A (p.Ser908=) rs114545322
NM_015102.5(NPHP4):c.2730C>A (p.Ala910=) rs771685224
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978
NM_015102.5(NPHP4):c.2753G>A (p.Arg918Gln) rs1221652464
NM_015102.5(NPHP4):c.279+11G>A rs113902159
NM_015102.5(NPHP4):c.279+47T>G rs115690090
NM_015102.5(NPHP4):c.279+6C>T rs199856317
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp) rs778505641
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) rs775927621
NM_015102.5(NPHP4):c.280-4G>T rs190495420
NM_015102.5(NPHP4):c.280-5T>G rs908276068
NM_015102.5(NPHP4):c.280-6C>G rs532995236
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992
NM_015102.5(NPHP4):c.2807C>A (p.Thr936Lys) rs201074950
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418
NM_015102.5(NPHP4):c.2817+3A>G rs1553158243
NM_015102.5(NPHP4):c.2818-20C>T rs794727344
NM_015102.5(NPHP4):c.2818-2= rs1217117155
NM_015102.5(NPHP4):c.2819C>T (p.Ala940Val)
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile) rs188262700
NM_015102.5(NPHP4):c.2849G>A (p.Arg950Gln) rs762546912
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs) rs1557619525
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.287A>G (p.Tyr96Cys) rs1557860994
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys) rs376773394
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) rs762709199
NM_015102.5(NPHP4):c.2901C>T (p.Ile967=)
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr) rs375090704
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.5(NPHP4):c.2920G>C (p.Ala974Pro)
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile) rs377683582
NM_015102.5(NPHP4):c.2962G>A (p.Ala988Thr) rs770053255
NM_015102.5(NPHP4):c.2964C>T (p.Ala988=) rs373285520
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser) rs28940891
NM_015102.5(NPHP4):c.2989A>G (p.Asn997Asp) rs1553157133
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met) rs528511138
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys)
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3045-5C>T
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.3059G>C (p.Ser1020Thr)
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.3081G>A (p.Lys1027=) rs745993624
NM_015102.5(NPHP4):c.3081G>T (p.Lys1027Asn)
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu) rs1557616029
NM_015102.5(NPHP4):c.309C>T (p.His103=)
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val) rs777310738
NM_015102.5(NPHP4):c.3123C>T (p.Phe1041=) rs779336075
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3150G>A (p.Gln1050=) rs776468806
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
NM_015102.5(NPHP4):c.3165C>G (p.Pro1055=) rs1166080060
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293
NM_015102.5(NPHP4):c.3169G>A (p.Glu1057Lys)
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
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.3226G>C (p.Val1076Leu)
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala)
NM_015102.5(NPHP4):c.3231+31A>G rs905467
NM_015102.5(NPHP4):c.3231+41T>C rs868163
NM_015102.5(NPHP4):c.3231+5G>A rs886046460
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
NM_015102.5(NPHP4):c.3237T>C (p.Ser1079=)
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg)
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780
NM_015102.5(NPHP4):c.3315+32G>A rs115555125
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3345C>T (p.Pro1115=) rs1340607654
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743
NM_015102.5(NPHP4):c.3360C>T (p.Cys1120=) rs188869698
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844
NM_015102.5(NPHP4):c.3378G>A (p.Gln1126=) rs1557593487
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556
NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met)
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His) rs763251283
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg)
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu) rs549077156
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867
NM_015102.5(NPHP4):c.3472+6T>C rs886038610
NM_015102.5(NPHP4):c.3473-16A>G rs376664242
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.5(NPHP4):c.3480G>A (p.Pro1160=) rs373955397
NM_015102.5(NPHP4):c.34G>A (p.Val12Met) rs201713171
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153
NM_015102.5(NPHP4):c.3525C>T (p.Ser1175=) rs779230173
NM_015102.5(NPHP4):c.3526G>A (p.Asp1176Asn) rs893677386
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe)
NM_015102.5(NPHP4):c.3559-19del rs201335783
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp)
NM_015102.5(NPHP4):c.3564C>A (p.Pro1188=)
NM_015102.5(NPHP4):c.356G>A (p.Arg119Gln)
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.3575G>A (p.Arg1192Gln) rs539967736
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs) rs1557588167
NM_015102.5(NPHP4):c.3645-15C>T rs558429618
NM_015102.5(NPHP4):c.3645-38C>T rs1287634
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015102.5(NPHP4):c.3686A>G (p.Tyr1229Cys) rs374390513
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.3723C>T (p.Val1241=) rs375485412
NM_015102.5(NPHP4):c.3754C>T (p.Leu1252Phe) rs398124290
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp) rs762195159
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>A (p.Gly1254=)
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile)
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680
NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp) rs1344500018
NM_015102.5(NPHP4):c.382T>C (p.Cys128Arg) rs1553196752
NM_015102.5(NPHP4):c.3832G>A (p.Val1278Ile) rs1305595456
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691
NM_015102.5(NPHP4):c.3850C>T (p.Arg1284Cys)
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) rs537859714
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.3899G>A (p.Ser1300Asn)
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) rs377183096
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015102.5(NPHP4):c.3943C>G (p.Leu1315Val) rs776086986
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met)
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) rs199583130
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=) rs763002637
NM_015102.5(NPHP4):c.39T>G (p.Leu13=) rs368335406
NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs) rs1557578607
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro)
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)
NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu) rs746256511
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln) rs768550124
NM_015102.5(NPHP4):c.4141-11C>T rs139203183
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=) rs766613810
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.4182G>A (p.Ala1394=)
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu)
NM_015102.5(NPHP4):c.4211T>C (p.Ile1404Thr) rs1553151351
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)
NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=)
NM_015102.5(NPHP4):c.4233T>C (p.His1411=) rs1557575235
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)
NM_015102.5(NPHP4):c.4260C>T (p.Cys1420=) rs376464726
NM_015102.5(NPHP4):c.442C>G (p.Gln148Glu)
NM_015102.5(NPHP4):c.453-27G>A rs200754878
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr) rs761063669
NM_015102.5(NPHP4):c.492C>T (p.His164=) rs863224422
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg) rs762284065
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015102.5(NPHP4):c.511G>T (p.Ala171Ser) rs113765431
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His)
NM_015102.5(NPHP4):c.563C>T (p.Thr188Met)
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015102.5(NPHP4):c.599A>G (p.His200Arg) rs878854994
NM_015102.5(NPHP4):c.600C>T (p.His200=) rs376039101
NM_015102.5(NPHP4):c.619C>T (p.Leu207=)
NM_015102.5(NPHP4):c.622G>A (p.Val208Met) rs759490134
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys)
NM_015102.5(NPHP4):c.672C>T (p.Ser224=) rs899131824
NM_015102.5(NPHP4):c.673+9G>A rs368961102
NM_015102.5(NPHP4):c.678C>T (p.Asp226=) rs755363322
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) rs752644932
NM_015102.5(NPHP4):c.714G>C (p.Thr238=) rs1011986078
NM_015102.5(NPHP4):c.789C>T (p.His263=) rs760440073
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
NM_015102.5(NPHP4):c.7G>A (p.Asp3Asn) 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.821C>T (p.Pro274Leu)
NM_015102.5(NPHP4):c.856C>T (p.Arg286Cys) rs189511182
NM_015102.5(NPHP4):c.857G>T (p.Arg286Leu)
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270
NM_015102.5(NPHP4):c.870C>T (p.Gly290=)
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr) rs1187572016
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272
NM_015102.5(NPHP4):c.945G>A (p.Thr315=) rs115272639
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213
NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg) rs772219240
NM_015102.5(NPHP4):c.9C>T (p.Asp3=) rs745503891

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