List of variants reported as likely pathogenic for Methylcobalamin deficiency type cblE by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_002454.3(MTRR):c.166G>A (p.Val56Met)	rs761061866	0.00002
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	rs1293600145	0.00001
NM_002454.3(MTRR):c.1371-1G>A	rs1219605974

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