ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
NM_172250.3(MMAA):c.562+4A>C
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

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