List of variants in gene SPTBN2 reported as benign for Autosomal recessive spinocerebellar ataxia 14

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)	rs4930388	0.98751
NM_006946.4(SPTBN2):c.657-47G>A	rs615536	0.89277
NM_006946.4(SPTBN2):c.2816+23A>G	rs532439	0.72382
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
NM_006946.4(SPTBN2):c.309+36T>C	rs12805133

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