ClinVar Miner

List of variants reported as pathogenic for Methylcobalamin deficiency type cblE by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.903+469T>C	rs893229476	0.00007
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001

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