ClinVar Miner

List of variants in gene GNAS reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_001077488.4(GNAS):c.1146_1148CAT[1] (p.Ile384del) rs1569032751
NM_001077488.4(GNAS):c.303A>C (p.Lys101Asn) rs1569015549
NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu) rs137854539
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.756C>G (p.Ser252Arg) rs1272546759
NM_001077488.4(GNAS):c.883C>T (p.Gln295Ter) rs863224876
NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) rs1135401777

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.