ClinVar Miner

List of variants reported as pathogenic for Vitamin B12-responsive methylmalonic acidemia type cblA by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000004.12:g.(?_145639120)_(145642505_?)del
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)

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