ClinVar Miner

List of variants studied for Vitamin B12-responsive methylmalonic acidemia type cblA by Nilou-Genome Lab

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Total variants: 6
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NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
NM_172250.3(MMAA):c.941G>A (p.Arg314His)

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