ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 23 by Illumina Laboratory Services, Illumina

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_024411.5(PDYN):c.*1030C>T rs2235749 0.36165
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_024411.5(PDYN):c.*1396C>T rs6106013 0.01038
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_024411.5(PDYN):c.*1071G>A rs752953257 0.00129
NM_024411.5(PDYN):c.*103C>T rs555671052 0.00051
NM_024411.5(PDYN):c.*231C>G rs565210312 0.00049
NM_024411.5(PDYN):c.691C>A (p.Arg231=) rs201204862 0.00022
NM_024411.5(PDYN):c.*836C>G rs80315813 0.00016
NM_024411.5(PDYN):c.*346G>A rs780894307 0.00013
NM_024411.5(PDYN):c.-162A>G rs886056537 0.00010
NM_024411.5(PDYN):c.483C>G (p.Leu161=) rs773513924 0.00010
NM_024411.5(PDYN):c.*33A>C rs556095353 0.00009
NM_024411.5(PDYN):c.*78A>G rs537887207 0.00009
NM_024411.5(PDYN):c.*522C>T rs886056532 0.00008
NM_024411.5(PDYN):c.*1457C>G rs529380614 0.00006
NM_024411.5(PDYN):c.*225T>C rs569014510 0.00006
NM_024411.5(PDYN):c.*636G>C rs993395808 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys) rs575606358 0.00006
NM_024411.5(PDYN):c.538C>T (p.Arg180Cys) rs370283678 0.00005
NM_024411.5(PDYN):c.*261C>T rs886056534 0.00004
NM_024411.5(PDYN):c.*320C>T rs1022899056 0.00004
NM_024411.5(PDYN):c.*1157T>G rs745852761 0.00003
NM_024411.5(PDYN):c.*561C>T rs886056531 0.00003
NM_024411.5(PDYN):c.*847T>C rs371550256 0.00003
NM_024411.5(PDYN):c.-19-1G>C rs769835663 0.00003
NM_024411.5(PDYN):c.*827A>G rs886056530 0.00002
NM_024411.5(PDYN):c.456C>T (p.Asn152=) rs148113209 0.00002
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys) rs1181111571 0.00002
NM_024411.5(PDYN):c.*1336G>C rs1402086088 0.00001
NM_024411.5(PDYN):c.*1532C>T rs886056528 0.00001
NM_024411.5(PDYN):c.*671T>C rs1290356604 0.00001
NM_024411.5(PDYN):c.*872C>A rs933617446 0.00001
NM_024411.5(PDYN):c.257C>T (p.Ser86Leu) rs781363760 0.00001
NM_024411.5(PDYN):c.501C>T (p.Asp167=) rs886056535 0.00001
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp) rs767807436 0.00001
NM_024411.5(PDYN):c.*1065C>T rs953182789
NM_024411.5(PDYN):c.*1274T>G rs886056529
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*1394C>T rs112661575
NM_024411.5(PDYN):c.*389A>T rs1987615154
NM_024411.5(PDYN):c.*556C>A rs73571349
NM_024411.5(PDYN):c.*65C>G rs1987645885
NM_024411.5(PDYN):c.*670A>T rs879202411
NM_024411.5(PDYN):c.*760G>C rs767631485
NM_024411.5(PDYN):c.*771T>C rs910079
NM_024411.5(PDYN):c.-42A>T rs886056536
NM_024411.5(PDYN):c.-43G>A rs947395569
NM_024411.5(PDYN):c.244T>C (p.Leu82=) rs987477947
NM_024411.5(PDYN):c.405C>T (p.Asp135=) rs147181436
NM_024411.5(PDYN):c.496del (p.Glu166fs) rs768036104
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.691C>T (p.Arg231Trp) rs201204862
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe) rs1987927570

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