ClinVar Miner

List of variants reported as benign for autosomal recessive spinocerebellar ataxia 14 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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 0.00525
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747

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