ClinVar Miner

List of variants in gene MMACHC reported by Division of Human Genetics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)	rs1553162786

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