ClinVar Miner

List of variants in gene AHI1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 189
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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.2623+1G>A rs751823180 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
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.1312dup (p.Asp438fs) rs748438350 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.276del (p.Ser93fs) rs765985758 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter) rs1487081231 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 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.1235dup (p.Leu413fs) rs772289223 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.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279 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.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 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.2988+6T>C rs751303913 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 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
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
GRCh37/hg19 6q23.3(chr6:135710693-135735779)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 6q23.3(chr6:135721284-135730984)x1
NC_000006.11:g.(?_135679250)_(135754414_?)del
NC_000006.11:g.(?_135749747)_(135784464_?)del
NC_000006.11:g.(?_135749761)_(135784450_?)del
NC_000006.11:g.(?_135751000)_(135754414_?)del
NC_000006.11:g.(?_135769428)_(135769613_?)del
NC_000006.12:g.(?_135358112)_(135358207_?)del
NC_000006.12:g.(?_135429882)_(135433256_?)del
NC_000006.12:g.135358181_135358190del
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
NM_001134831.2(AHI1):c.102del (p.Lys36fs)
NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)
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.1057_1064del (p.Thr352_Asp353insTer)
NM_001134831.2(AHI1):c.1064_1065del (p.Leu355fs)
NM_001134831.2(AHI1):c.1069del (p.Ser357fs)
NM_001134831.2(AHI1):c.1070C>G (p.Ser357Ter) rs1562219266
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1119del (p.Glu373fs)
NM_001134831.2(AHI1):c.1151+1del
NM_001134831.2(AHI1):c.1152-1G>A
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter) rs761388040
NM_001134831.2(AHI1):c.1171del (p.Tyr391fs)
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1230del (p.Phe410fs)
NM_001134831.2(AHI1):c.1242del (p.Lys414fs) rs1165489547
NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)
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.1330_1331insGGATA (p.Ile444fs) rs1788833484
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
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.1500C>G (p.Tyr500Ter)
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)
NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter)
NM_001134831.2(AHI1):c.1574_1588del (p.His525_Thr529del)
NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter) rs2128058828
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1623del (p.Cys542fs)
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)
NM_001134831.2(AHI1):c.166_167del (p.Met56fs) rs2128100863
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) rs1787347907
NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter) rs781198326
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
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.1900dup (p.Tyr634fs) rs2128046176
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs)
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.2010del (p.Thr671fs)
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.2042G>A (p.Trp681Ter)
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs)
NM_001134831.2(AHI1):c.2072del (p.Phe691fs)
NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
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.2186_2190del (p.Met729fs)
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2233del (p.Ser745fs) rs1784890440
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs) rs1784887448
NM_001134831.2(AHI1):c.2266+1G>A
NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter)
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.2295del (p.Gly766_Val767insTer)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2315_2318del (p.Asn772fs) rs1784617227
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.2369_2372del (p.Asn790fs) rs1562753388
NM_001134831.2(AHI1):c.2383_2386del (p.Glu795fs)
NM_001134831.2(AHI1):c.2388dup (p.Glu797Ter)
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001134831.2(AHI1):c.2493-2A>G rs886039465
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer) rs1410559569
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2609G>A (p.Trp870Ter) rs1057524843
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2623+2T>A rs2128009190
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del)
NM_001134831.2(AHI1):c.2703_2707dup (p.Ala903fs)
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845
NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)
NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)
NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)
NM_001134831.2(AHI1):c.2912_2919dup (p.Thr974fs) rs1781571282
NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)
NM_001134831.2(AHI1):c.2970dup (p.Arg991fs) rs1780545912
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3055_3056del (p.Ser1019fs)
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs)
NM_001134831.2(AHI1):c.307_308insTAAATTGAGGA (p.Asn103delinsIleAsnTer)
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)
NM_001134831.2(AHI1):c.308del (p.Asn103fs)
NM_001134831.2(AHI1):c.3138_3141dup (p.His1048Ter)
NM_001134831.2(AHI1):c.313_314del (p.Gln105fs)
NM_001134831.2(AHI1):c.3171_3174del (p.Ala1058fs)
NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter)
NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter) rs2128384779
NM_001134831.2(AHI1):c.3229_3235dup (p.Arg1079fs) rs1787150198
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs)
NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)
NM_001134831.2(AHI1):c.329dup (p.Asn110fs)
NM_001134831.2(AHI1):c.3303dup (p.Pro1102fs) rs2128384496
NM_001134831.2(AHI1):c.3313del (p.His1105fs)
NM_001134831.2(AHI1):c.3365dup (p.Ser1123fs)
NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)
NM_001134831.2(AHI1):c.3438_3439insC (p.Lys1147fs)
NM_001134831.2(AHI1):c.344_384dup (p.Val129delinsLeuValTer)
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs)
NM_001134831.2(AHI1):c.3501del (p.Glu1168fs)
NM_001134831.2(AHI1):c.392dup (p.Thr132fs)
NM_001134831.2(AHI1):c.404del (p.Gln135fs)
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter) rs1257185309
NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter)
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)
NM_001134831.2(AHI1):c.894del (p.Lys298fs)
NM_001134831.2(AHI1):c.900del (p.Lys300fs) rs2128092639
NM_001134831.2(AHI1):c.910del (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.914_917del (p.Lys305fs)
NM_001134831.2(AHI1):c.917dup (p.Lys307fs)
NM_001134831.2(AHI1):c.96del (p.Lys32fs)
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175

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