List of variants in gene combination LOC126859837, SYNE1 reported as pathogenic for cerebellar ataxia

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.16804del (p.Met5602fs)
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)	rs886043923
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)	rs777656140
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)	rs2153836962

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