ClinVar Miner

List of variants reported as benign for autosomal recessive spinocerebellar ataxia 14

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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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