List of variants in gene SPTBN2 reported as pathogenic for Spinocerebellar ataxia type 5

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)

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	rs1941485201
NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)	rs2495860648
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	rs121918306

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