ClinVar Miner

List of variants studied for Joubert syndrome 3 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1146T>A
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1327C>T
NM_001134831.2(AHI1):c.*1404A>G
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1568A>T
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*1684T>C
NM_001134831.2(AHI1):c.*216G>A
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.*246T>C
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*484G>A
NM_001134831.2(AHI1):c.*588A>G rs555215397
NM_001134831.2(AHI1):c.*68C>T rs886061108
NM_001134831.2(AHI1):c.*793A>G rs191324834
NM_001134831.2(AHI1):c.*80C>T rs536580823
NM_001134831.2(AHI1):c.*981C>T
NM_001134831.2(AHI1):c.-214C>T rs183265971
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.-332C>G
NM_001134831.2(AHI1):c.-347C>T
NM_001134831.2(AHI1):c.-53A>G
NM_001134831.2(AHI1):c.-54G>T
NM_001134831.2(AHI1):c.10+13T>C
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.1780-3T>C
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.189+12T>C
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496
NM_001134831.2(AHI1):c.1912+15T>G
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2492+15G>A rs535243555
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
NM_001134831.2(AHI1):c.2962-13G>A
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3109+14T>A
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_017651.4(AHI1):c.3368C>T rs117447608

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