ClinVar Miner

List of variants reported as uncertain significance for Methylcobalamin deficiency type cblE by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	0.00096
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)	rs1738413262
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)	rs1734869328

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