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

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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.7109G>A (p.Arg2370His)	rs145522851	0.00011
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)	rs1207850001	0.00001
GRCh37/hg19 11q13.2(chr11:66472691-66475714)x1
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val)	rs1940755126

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