ClinVar Miner

List of variants in gene NPHP4 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 85
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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_015102.5(NPHP4):c.*26C>T rs533259623
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.1047C>T (p.Val349=) rs560597983
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051
NM_015102.5(NPHP4):c.1120-13G>T rs192450719
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.1330C>T (p.Arg444Trp) rs375090105
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1366dup (p.Asp456fs) rs1557755692
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.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242
NM_015102.5(NPHP4):c.1503+10G>A rs41307782
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
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.1764-5C>T rs370899989
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.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.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754
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.2419C>T (p.Arg807Cys) rs770004315
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615
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.2701C>T (p.Pro901Ser) rs886046464
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978
NM_015102.5(NPHP4):c.279+11G>A rs113902159
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973
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.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924
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.3231+5G>A rs886046460
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844
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.3612G>A (p.Pro1204=) rs374003717
NM_015102.5(NPHP4):c.3645-15C>T rs558429618
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.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.3864C>T (p.Asp1288=) rs886046459
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
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.4114C>T (p.Leu1372=) rs374146357
NM_015102.5(NPHP4):c.4141-11C>T rs139203183
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.6C>T (p.Asn2=) rs371472576
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467

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