List of variants in gene MME reported as pathogenic for autosomal dominant 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	rs149905705	0.00008
NM_007289.4(MME):c.2154G>T (p.Arg718Ser)	rs1284714866
NM_007289.4(MME):c.428G>A (p.Cys143Tyr)	rs879255651
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007289.4(MME):c.594dup (p.Val199fs)	rs1254522989

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