ClinVar Miner

List of variants in gene MMAA reported as pathogenic by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432

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.