ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 10 by Illumina Laboratory Services, Illumina

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Total variants: 71
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HGVS dbSNP gnomAD frequency
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.-104C>T rs6799022 0.01014
NM_018075.5(ANO10):c.-90C>T rs565644253 0.00916
NM_018075.5(ANO10):c.*447G>A rs112787589 0.00714
NM_018075.5(ANO10):c.-83T>C rs760135054 0.00581
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.-31G>C rs533146042 0.00347
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.-74C>T rs886058482 0.00029
NM_018075.5(ANO10):c.-67C>T rs563565187 0.00028
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.*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.1401G>T (p.Val467=) rs149580265 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.1643C>A (p.Pro548His) rs538680619 0.00002
NM_018075.5(ANO10):c.*237G>C rs904271838 0.00001
NM_018075.5(ANO10):c.-102C>A rs886058484 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.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
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.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.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) rs886058477
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.192A>G (p.Leu64=) rs146432615
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

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