ClinVar Miner

List of variants reported as pathogenic for Methylcobalamin deficiency type cblG by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.2474-1G>C	rs757963570	0.00001
NM_000254.3(MTR):c.610-1G>T	rs1661544157

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