List of variants in gene SPTBN2 reported as likely 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)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)	rs764884402	0.00002
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)	rs541484241
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)	rs1590955348
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	rs1554986345
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.1877T>C (p.Leu626Pro)	rs1554984881
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)	rs2135526204
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)	rs1940772032
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)	rs875989881
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)	rs2135319250
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)	rs1941829953

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