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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)	rs147960130	0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met)	rs761061866	0.00002
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)	rs748533060	0.00001
NM_002454.3(MTRR):c.1147-1G>A
NM_002454.3(MTRR):c.1164del (p.Val389fs)
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)	rs2478648157
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
NM_002454.3(MTRR):c.226del (p.Ile76fs)
NM_002454.3(MTRR):c.339del (p.Lys113fs)
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)	rs1748694912
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
NM_002454.3(MTRR):c.593del (p.Asp198fs)

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