List of variants in gene MMACHC reported as likely pathogenic by Invitae

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	rs752205161	0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)	rs1553162901	0.00001
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-2A>G	rs202000595
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)	rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)	rs2149323564
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)	rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)	rs1643666556
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)	rs768353633
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.