ClinVar Miner

List of variants in gene AHI1 studied for Joubert syndrome and related disorders

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NC_000006.11:g.(135732683_135748304)_(135751139_135752345)del
NC_000006.11:g.(135732683_135748304)_(135752453_135754164)del
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2623+1G>C
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.630_631del (p.Lys211fs)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671

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