ClinVar Miner

List of variants studied for Methylmalonic acidemia with homocystinuria, type cblX by Illumina Laboratory Services, Illumina

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937

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