ClinVar Miner

List of variants in gene NPHP4 studied for not specified

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Gene type:
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Total variants: 68
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HGVS dbSNP
NM_015102.3(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.3(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.4(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.4(NPHP4):c.1089G>T (p.Val363=) rs201464887
NM_015102.4(NPHP4):c.1441+13A>G rs7520105
NM_015102.4(NPHP4):c.1442-7C>T rs146078470
NM_015102.4(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.4(NPHP4):c.1500A>G (p.Pro500=) rs753250092
NM_015102.4(NPHP4):c.1611+9C>T rs114900019
NM_015102.4(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
NM_015102.4(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500
NM_015102.4(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.4(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_015102.4(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.4(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135
NM_015102.4(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.4(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.4(NPHP4):c.2219G>A (p.Arg740His) rs34248917
NM_015102.4(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.4(NPHP4):c.2293G>A (p.Val765Ile) rs149244006
NM_015102.4(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705
NM_015102.4(NPHP4):c.2485+38C>T rs41280814
NM_015102.4(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.4(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.4(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.4(NPHP4):c.2612-33G>A rs3747989
NM_015102.4(NPHP4):c.2643G>A (p.Ala881=) rs3747990
NM_015102.4(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272
NM_015102.4(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.4(NPHP4):c.279+11G>A rs113902159
NM_015102.4(NPHP4):c.279+47T>G rs115690090
NM_015102.4(NPHP4):c.280-6C>G rs532995236
NM_015102.4(NPHP4):c.2802C>T (p.Arg934=) rs3747992
NM_015102.4(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.4(NPHP4):c.2812G>A (p.Val938Met) rs184961418
NM_015102.4(NPHP4):c.2818-2T>A rs1217117155
NM_015102.4(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015102.4(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.4(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015102.4(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.4(NPHP4):c.3036C>T (p.Pro1012=) rs34265978
NM_015102.4(NPHP4):c.3081G>A (p.Lys1027=) rs745993624
NM_015102.4(NPHP4):c.3144C>G (p.Ala1048=) rs540738356
NM_015102.4(NPHP4):c.3168C>T (p.His1056=) rs376351293
NM_015102.4(NPHP4):c.3231+31A>G rs905467
NM_015102.4(NPHP4):c.3231+41T>C rs868163
NM_015102.4(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.4(NPHP4):c.3315+32G>A rs115555125
NM_015102.4(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.4(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867
NM_015102.4(NPHP4):c.3472+6T>C rs886038610
NM_015102.4(NPHP4):c.3473-16A>G rs376664242
NM_015102.4(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.4(NPHP4):c.3559-19delC rs201335783
NM_015102.4(NPHP4):c.3570A>G (p.Glu1190=) rs555164
NM_015102.4(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622
NM_015102.4(NPHP4):c.3645-38C>T rs1287634
NM_015102.4(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015102.4(NPHP4):c.3777G>A (p.Arg1259=) rs369566680
NM_015102.4(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
NM_015102.4(NPHP4):c.3911A>G (p.His1304Arg) rs115488133
NM_015102.4(NPHP4):c.4141-11C>T rs139203183
NM_015102.4(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267
NM_015102.4(NPHP4):c.453-27G>A rs200754878
NM_015102.4(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015102.4(NPHP4):c.86C>T (p.Thr29Met) rs12142270
NM_015102.4(NPHP4):c.944C>T (p.Thr315Met) rs200684272
NM_015102.5(NPHP4):c.3045-5C>T

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