List of variants in gene MMAA reported as pathogenic for Methylmalonic acidemia

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	rs104893846	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	rs1029096863	0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	rs765799472	0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	rs757548934	0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	rs571038432	0.00001
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	rs796051993
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	rs140356252

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