ClinVar Miner

List of variants in gene AHI1 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NC_000006.11:g.(?_135715894)_(135732702_?)del
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1116_*1118TAT[1] rs886061104
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*447T>A rs886061106
NM_001134831.2(AHI1):c.*500_*504del rs886061105
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.-214C>T rs183265971
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
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.2105C>T (p.Thr702Met) rs756276537
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn)
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg)
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.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517

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