List of variants in gene MMADHC reported as pathogenic for Isolated methylmalonic aciduria cblD type

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_015702.3(MMADHC):c.160C>T (p.Arg54Ter)	rs118204047
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)	rs397509362
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)	rs397509361

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