ClinVar Miner

List of variants studied for Senior-Loken syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 428
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.110123331A>T
NC_000002.12:g.110205022G>A
NM_000272.4(NPHP1):c.*250C>T rs150558683
NM_000272.4(NPHP1):c.*322A>G rs886054752
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.1438-4C>T rs151204566
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) rs886054753
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) rs573192954
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) rs138181219
NM_000272.4(NPHP1):c.1929+5A>C rs201030203
NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln) rs780427871
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) rs200631256
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.438T>C (p.Asn146=) rs548684868
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) rs143163969
NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser) rs769509705
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) rs139787582
NM_000272.4(NPHP1):c.940-5T>C rs201478764
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) rs141763330
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) rs886054754
NM_001023570.4(IQCB1):c.*148T>C
NM_001023570.4(IQCB1):c.*151T>C
NM_001023570.4(IQCB1):c.*160C>T
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.*218G>A
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.*327T>C
NM_001023570.4(IQCB1):c.*399A>G
NM_001023570.4(IQCB1):c.-12-4A>T
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-178C>T rs191557781
NM_001023570.4(IQCB1):c.-179G>A
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.-190C>T rs145282757
NM_001023570.4(IQCB1):c.-193T>C rs114555283
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr)
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826
NM_001023570.4(IQCB1):c.877-11C>T rs192296154
NM_001128178.3(NPHP1):c.*194T>C
NM_001128178.3(NPHP1):c.*199A>G
NM_001128178.3(NPHP1):c.*238T>C
NM_001128178.3(NPHP1):c.-17G>A
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
NM_001128178.3(NPHP1):c.1716+15T>C
NM_001128178.3(NPHP1):c.1717-5T>G
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
NM_001128178.3(NPHP1):c.771+148G>T
NM_001128178.3(NPHP1):c.771+178C>T
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-106G>T rs886046328
NM_006642.5(SDCCAG8):c.-121C>T rs768318766
NM_006642.5(SDCCAG8):c.-130C>A rs547776191
NM_006642.5(SDCCAG8):c.-131T>C rs886046327
NM_006642.5(SDCCAG8):c.-47T>A rs3904682
NM_006642.5(SDCCAG8):c.-4G>A rs113193158
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.420+12A>G
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554
NM_006642.5(SDCCAG8):c.741-7T>C
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404
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.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.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
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.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.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.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.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.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.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_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.4(CEP290):c.*151T>C
NM_025114.4(CEP290):c.*168A>G
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-147A>T rs753567406
NM_025114.4(CEP290):c.-203C>A
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.-33G>T rs139415563
NM_025114.4(CEP290):c.-38G>C rs886049886
NM_025114.4(CEP290):c.-41C>T rs759820573
NM_025114.4(CEP290):c.-96C>T rs528270888
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.4(CEP290):c.1360-4T>G rs200328638
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.251-11T>A rs200666995
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.274A>G (p.Met92Val)
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-15T>A rs565414938
NM_025114.4(CEP290):c.3574-9T>A
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=)
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)
NM_025114.4(CEP290):c.5709+12A>G rs371010287
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.4(CEP290):c.6358-5C>T rs372986399
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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