ClinVar Miner

List of variants in gene AHI1 reported as likely pathogenic for Joubert syndrome 3

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Total variants: 14
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GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.430del (p.Glu144fs)

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