ClinVar Miner

List of variants in gene ANO10 studied for Autosomal recessive spinocerebellar ataxia 10

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.1915-5852T>C rs6441771 0.97895
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_018075.5(ANO10):c.*432G>T rs17075612 0.05474
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_018075.5(ANO10):c.*196C>A rs73831274 0.02784
NM_018075.5(ANO10):c.*444C>T rs114518528 0.02745
NM_018075.5(ANO10):c.*246A>G rs73831273 0.02628
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628 0.02348
NM_018075.5(ANO10):c.1477-14G>A rs78884042 0.02011
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_018075.5(ANO10):c.*179C>T rs111871863 0.01862
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665 0.01413
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945 0.01193
NM_018075.5(ANO10):c.*447G>A rs112787589 0.00714
NM_018075.5(ANO10):c.1669-8T>G rs115769245 0.00517
NM_018075.5(ANO10):c.*368C>T rs114561351 0.00457
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728 0.00281
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) rs147989825 0.00180
NM_018075.5(ANO10):c.1914+3G>A rs113187031 0.00068
NM_018075.5(ANO10):c.*91G>A rs776954907 0.00061
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018075.5(ANO10):c.*82G>A rs560234921 0.00029
NM_018075.5(ANO10):c.473-6G>A rs184416837 0.00020
NM_018075.5(ANO10):c.1864A>G (p.Met622Val) rs141806947 0.00019
NM_018075.5(ANO10):c.236T>G (p.Met79Arg) rs201275096 0.00017
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_018075.5(ANO10):c.*372G>T rs145489333 0.00011
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) rs191413952 0.00011
NM_018075.5(ANO10):c.*452A>G rs886058476 0.00010
NM_018075.5(ANO10):c.*418T>C rs1009967018 0.00009
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) rs187425614 0.00009
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp) rs143322256 0.00009
NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg) rs761659935 0.00006
NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys) rs200570277 0.00005
NM_018075.5(ANO10):c.*164C>T rs1025591959 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018075.5(ANO10):c.592+3A>G rs775510692 0.00004
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_018075.5(ANO10):c.1401G>T (p.Val467=) rs149580265 0.00003
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg) rs387907089 0.00003
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_018075.5(ANO10):c.1710C>T (p.Asn570=) rs142862162 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_018075.5(ANO10):c.1643C>A (p.Pro548His) rs538680619 0.00002
NM_018075.5(ANO10):c.*237G>C rs904271838 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter) rs768831597 0.00001
NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys) rs145543748 0.00001
NM_018075.5(ANO10):c.1628G>A (p.Arg543His) rs372086237 0.00001
NM_018075.5(ANO10):c.1923G>A (p.Lys641=) rs1260794121 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys) rs886058480 0.00001
NM_018075.5(ANO10):c.676G>A (p.Ala226Thr) rs188443010 0.00001
NM_018075.5(ANO10):c.802A>G (p.Met268Val) rs372215383 0.00001
NM_018075.5(ANO10):c.853C>T (p.Arg285Trp) rs767044966 0.00001
NC_000003.11:g.(43474220_43591211)_(43602895_43607144)del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NM_018075.5(ANO10):c.*165G>A rs951493321
NM_018075.5(ANO10):c.*438A>T rs376644560
NM_018075.5(ANO10):c.*569T>C rs1044107285
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) rs1405576707
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter) rs144272231
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) rs794726680
NM_018075.5(ANO10):c.1162+1G>A
NM_018075.5(ANO10):c.1218+4A>T rs886058479
NM_018075.5(ANO10):c.1277T>C (p.Met426Thr) rs768830099
NM_018075.5(ANO10):c.127A>G (p.Lys43Glu) rs747139453
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1476+1G>T rs761213683
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) rs886058477
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer) rs794726681
NM_018075.5(ANO10):c.1669-2A>T rs797045240
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.1735C>T (p.Gln579Ter)
NM_018075.5(ANO10):c.192A>G (p.Leu64=) rs146432615
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter) rs2149481901
NM_018075.5(ANO10):c.218G>A (p.Gly73Asp) rs2149481812
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter) rs1210764379
NM_018075.5(ANO10):c.338-11T>C rs774494441
NM_018075.5(ANO10):c.616del (p.Glu206fs) rs886058481
NM_018075.5(ANO10):c.857C>T (p.Pro286Leu) rs375157457
NM_018075.5(ANO10):c.882C>G (p.Ile294Met) rs2081034644
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084

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