List of variants reported as pathogenic for Joubert syndrome 3

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 46

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HGVS	dbSNP
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.1115A>G (p.Asp372Gly)	rs863225133
NM_001134831.2(AHI1):c.1152-2A>G	rs753085250
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	rs863225143
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	rs777668842
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)	rs121434349
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
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.1516C>T (p.Arg506Ter)	rs371637724
NM_001134831.2(AHI1):c.1614del (p.Val539fs)	rs863225141
NM_001134831.2(AHI1):c.1626+1G>A	rs863225137
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC	rs863225148
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	rs267606641
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	rs797045223
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)	rs863225132
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)	rs764412921
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)	rs541041911
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)	rs863225147
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)	rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)	rs863225145
NM_001134831.2(AHI1):c.2036+1G>T	rs776093293
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)	rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)	rs863225134
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)	rs755407014
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	rs863225144
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)	rs863225140
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	rs372659908
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	rs794727174
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)	rs863225139
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)	rs863225146
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)	rs387906270
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)	rs863225131
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)	rs587783014
NM_001134831.2(AHI1):c.2623+1G>T	rs751823180
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	rs1355690902
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	rs863225135
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)	rs368788993
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	rs863225138
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)	rs863225142
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	rs201391050

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