List of variants in gene GNAS reported as likely pathogenic for not provided

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1038+1G>C
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)	rs137854537
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr)	rs1064795798
NM_000516.7(GNAS):c.1154G>A (p.Arg385His)
NM_000516.7(GNAS):c.1A>G (p.Met1Val)	rs137854530
NM_000516.7(GNAS):c.257+1G>T	rs111541229
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)	rs2146178601
NM_000516.7(GNAS):c.305C>T (p.Ala102Val)	rs1131691999
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter)	rs2146178875
NM_000516.7(GNAS):c.312+5G>C
NM_000516.7(GNAS):c.313-2A>C
NM_000516.7(GNAS):c.313-3_313-2del
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile)	rs767946220
NM_000516.7(GNAS):c.31del (p.Asp11fs)	rs2089376607
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu)	rs2090974560
NM_000516.7(GNAS):c.494G>A (p.Arg165His)	rs2090976265
NM_000516.7(GNAS):c.499_501del (p.Asn167del)	rs2090976492
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg)	rs2146264846
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.659+1G>A	rs2146272908
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.743T>A (p.Val248Glu)
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)	rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His)	rs2146285582
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly)	rs2146285803
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)	rs2146291027
NM_000516.7(GNAS):c.891_905del (p.Glu299_Ala303del)	rs1555891728
NM_000516.7(GNAS):c.970+2T>C	rs1601166850
NM_016592.5(GNAS):c.3G>A (p.Met1Ile)	rs1568906610

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.