ClinVar Miner

List of variants in gene NPHP4 reported by Invitae

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser) rs377155892
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898
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.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.1695C>T (p.Ala565=) rs773050903
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274
NM_015102.5(NPHP4):c.202C>A (p.Arg68=) rs771873685
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala)
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418
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.2940G>A (p.Thr980=) rs146948888
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448
NM_015102.5(NPHP4):c.3123C>T (p.Phe1041=) rs779336075
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His)
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe)
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243
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.3984G>A (p.Pro1328=) rs763002637
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357
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.4260C>T (p.Cys1420=) rs376464726
NM_015102.5(NPHP4):c.492C>T (p.His164=) rs863224422
NM_015102.5(NPHP4):c.599A>G (p.His200Arg) rs878854994
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile)
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213

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