ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia type 5 by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00486
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00192
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00002
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747

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