List of variants in gene MMAA studied for not specified

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.747G>A (p.Ser249=)	rs11721553	0.07844
NM_172250.3(MMAA):c.-56A>G	rs4835011	0.06388
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	rs2270655	0.04892
NM_172250.3(MMAA):c.138T>C (p.Ser46=)	rs34702224	0.01204
NM_172250.3(MMAA):c.-35A>T	rs150259804	0.00364
NM_172250.3(MMAA):c.597G>A (p.Glu199=)	rs116773849	0.00262
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	rs374347679	0.00017
NM_172250.3(MMAA):c.729C>T (p.Thr243=)	rs138111772	0.00014
NM_172250.3(MMAA):c.1236A>G (p.Lys412=)	rs184111056	0.00007
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)	rs144389160	0.00003
NM_172250.3(MMAA):c.970-5G>A	rs370814663	0.00003
NM_172250.3(MMAA):c.970-6C>T	rs774402841	0.00002
NM_172250.3(MMAA):c.748G>A (p.Glu250Lys)

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.