ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 3 by OMIM

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Total variants: 10
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NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050

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