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

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)	rs1318256630
NM_006946.4(SPTBN2):c.157+1G>A	rs2135558909
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)	rs146859515
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)	rs373728971
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)	rs1590911156
NM_006946.4(SPTBN2):c.6304G>T (p.Glu2102Ter)

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