ClinVar Miner

List of variants studied for Methylcobalamin deficiency type cblG by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.609+1088G>A rs752526782

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