List of variants in gene GNAS reported as benign by CeGaT Center for Human Genetics Tuebingen

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016592.5(GNAS):c.651T>A (p.Arg217=)	rs75176432	0.00661
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	rs74897360	0.00538
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)	rs200430001	0.00433
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	rs55890501	0.00388
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla)	rs745433225
NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla)	rs745433225
NM_000516.7(GNAS):c.-18_-16GCC[9]	rs745433225
NM_016592.5(GNAS):c.*42+10000C>T
NM_016592.5(GNAS):c.*42+9924G>A
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)	rs559714658
NM_080425.4(GNAS):c.2069-5679A>C
NR_185847.1(GNAS-AS1):n.749C>T

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.