List of variants in gene MAF reported as benign for multiple congenital anomalies/dysmorphic syndrome

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005360.5(MAF):c.611G>T (p.Gly204Val)	rs867401075	0.01145
NM_005360.5(MAF):c.1179G>A (p.Gln393=)	rs149118803	0.00086
NM_005360.5(MAF):c.882G>A (p.Arg294=)	rs140303158	0.00061
NM_005360.5(MAF):c.715G>A (p.Ala239Thr)	rs561314990	0.00058
NM_005360.5(MAF):c.1028C>T (p.Ala343Val)	rs201126542	0.00006
NM_005360.5(MAF):c.-30GGC[7]	rs5818251
NM_005360.5(MAF):c.456C>T (p.Gly152=)	rs1913849090
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del)	rs887468453

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.