ClinVar Miner

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

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Total variants: 3
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NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939

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