List of variants studied for Methylcobalamin deficiency type cblE by OMIM

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Total variants: 6

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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
MTRR, 4-BP DEL, NT1675
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)	rs137853061
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter)	rs2126808021
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del)	rs2126812944

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