List of variants in gene MTRR reported as uncertain significance for Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.505G>A (p.Val169Met)	rs147742177	0.00021
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	rs138098668	0.00012
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)	rs150411351	0.00006

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