List of variants in gene MMAA studied 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
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.*4119del	rs200143270	0.01489
NM_172250.3(MMAA):c.597G>A (p.Glu199=)	rs116773849	0.00262
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	rs374347679	0.00017
NM_172250.3(MMAA):c.*1838G>A	rs886059098	0.00006
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=)	rs759947234	0.00003
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)	rs369128670	0.00002
NM_172250.3(MMAA):c.*2019A>G	rs886059102	0.00001
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.1897_1901del	rs377206435
NM_172250.3(MMAA):c.*1952dup	rs150630369
NM_172250.3(MMAA):c.*2617C>A	rs886059108
NM_172250.3(MMAA):c.2622_2625del	rs60186480
NM_172250.3(MMAA):c.*3257del	rs886059113
NM_172250.3(MMAA):c.*3274del	rs33978754
NM_172250.3(MMAA):c.*3356del	rs577478683
NM_172250.3(MMAA):c.*589C>G	rs886059095
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
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
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	rs864309730

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