List of variants in gene combination LOC129930446, MMACHC reported as likely benign for anemia

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.606T>C (p.Asp202=)	rs748881103	0.00002
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)	rs577804554	0.00001
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)	rs774357624	0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	rs369621922	0.00001
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	rs398124294
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)	rs747527726
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=)	rs1327886469
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)	rs948189041
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)	rs781527733
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)	rs2149324023
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)

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.