List of variants reported as pathogenic for Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	rs375908206	0.00002
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)	rs1421007019	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	rs1353165398	0.00001
NM_002454.3(MTRR):c.1677-1G>A

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