ClinVar Miner

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

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Gene type:
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Total variants: 58
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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.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
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.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
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+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
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.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.2037-1G>C rs1784918128
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.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2266+1G>A
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
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.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898

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