ClinVar Miner

List of variants reported as likely pathogenic for Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type

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Total variants: 8
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HGVS dbSNP
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7885880_7887275del
NM_002454.3(MTRR):c.1371-1G>A
NM_002454.3(MTRR):c.1769+1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
NM_002454.3(MTRR):c.283+1_283+20del
NM_002454.3(MTRR):c.402-1G>T
NM_002454.3(MTRR):c.973_1146+462del

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