List of variants reported as benign for Methylcobalamin deficiency type cblE by Genome-Nilou Lab

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	rs1801394	0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	rs1532268	0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	rs1802059	0.31218
NM_002454.3(MTRR):c.537T>C (p.Leu179=)	rs161870	0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)	rs162036	0.20973
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)	rs6874544	0.01706
NM_002454.3(MTRR):c.1875G>A (p.Val625=)	rs12347
NM_002454.3(MTRR):c.904-20dup	rs11398509

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