ClinVar Miner

List of variants in gene MMAA reported as benign for Vitamin B12-responsive methylmalonic acidemia type cblA

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Total variants: 21
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HGVS dbSNP
NM_172250.3(MMAA):c.*1782A>G rs114134771
NM_172250.3(MMAA):c.*2142T>C rs72723824
NM_172250.3(MMAA):c.*2372T>A rs74719174
NM_172250.3(MMAA):c.*2608T>C rs7699187
NM_172250.3(MMAA):c.*2658G>A rs72723825
NM_172250.3(MMAA):c.*2768A>T rs7699166
NM_172250.3(MMAA):c.*2866A>G rs17020500
NM_172250.3(MMAA):c.*306T>A rs74409983
NM_172250.3(MMAA):c.*3621G>A rs55770806
NM_172250.3(MMAA):c.*3824C>A rs72950842
NM_172250.3(MMAA):c.*4336A>G rs138752110
NM_172250.3(MMAA):c.*434C>T rs72950841
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.734-74G>A
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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