ClinVar Miner

List of variants in gene GNAS reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016592.5(GNAS):c.-52A>G rs1800900 0.57843
NM_016592.5(GNAS):c.*42+54A>G rs1800905 0.57266
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_080425.4(GNAS):c.2068+89C>G rs73306256 0.43903
NM_000516.7(GNAS):c.432+93G>A rs3730168 0.35717
NM_000516.7(GNAS):c.258-138A>T rs2295583 0.30480
NM_000516.7(GNAS):c.531-132T>C rs919196 0.21645
NM_000516.7(GNAS):c.432+287A>G rs6026593 0.19311
NM_000516.7(GNAS):c.140-150G>A rs3730164 0.15261
NM_000516.7(GNAS):c.840-72C>T rs3730173 0.09640
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_080425.4(GNAS):c.2068+180A>T rs75029190 0.08285
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000516.7(GNAS):c.433-18T>C rs3730170 0.07025
NM_016592.5(GNAS):c.-295C>G rs61558260 0.06254
NM_016592.5(GNAS):c.*42+21C>T rs1800904 0.06241
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_016592.5(GNAS):c.294C>T (p.Pro98=) rs1800902 0.04961
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_000516.7(GNAS):c.433-71G>T rs3730169 0.01978
NM_080425.4(GNAS):c.2068+169A>T rs115850041 0.01763
NM_000516.7(GNAS):c.257+159A>G rs80350825 0.01632
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) rs79527543 0.01288
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_080425.4(GNAS):c.525T>C (p.Ser175=) rs114255910 0.00782
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_016592.5(GNAS):c.651T>A (p.Arg217=) rs75176432 0.00661
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000516.7(GNAS):c.*136G>A rs3730177 0.00553
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_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_016592.5(GNAS):c.441G>A (p.Pro147=) rs77400319 0.00146
NM_080425.4(GNAS):c.196G>A (p.Glu66Lys) rs200924357 0.00145
NM_000516.7(GNAS):c.306G>A (p.Ala102=) rs117849691 0.00131
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_000516.7(GNAS):c.9C>T (p.Cys3=) rs200810763 0.00061
NM_000516.7(GNAS):c.432+15G>A rs180919300 0.00041
NM_000516.7(GNAS):c.530+10C>T rs199499878 0.00016
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) rs111796234 0.00014
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.18C>T (p.Asn6=) rs543390941 0.00010
NM_000516.7(GNAS):c.586-12A>G rs367909148 0.00010
NM_000516.7(GNAS):c.90G>A (p.Leu30=) rs144260225 0.00008
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
GRCh38/hg38 20q13.32(chr20:58850610-58851543)x3
NM_000516.7(GNAS):c.-18GCC[5]
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_000516.7(GNAS):c.1039-127T>C rs234628
NM_000516.7(GNAS):c.12C>T (p.Leu4=)
NM_000516.7(GNAS):c.139+18del rs2145917890
NM_000516.7(GNAS):c.140-247_140-243del rs148549965
NM_000516.7(GNAS):c.257+16del
NM_000516.7(GNAS):c.324C>T (p.Ala108=)
NM_000516.7(GNAS):c.432+10A>T
NM_000516.7(GNAS):c.432+11C>A
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.531-269G>A rs234629
NM_000516.7(GNAS):c.585+10del
NM_000516.7(GNAS):c.585+55C>G rs3730172
NM_000516.7(GNAS):c.659+22dup
NM_000516.7(GNAS):c.699G>A (p.Lys233=)
NM_000516.7(GNAS):c.839+18C>T
NM_016592.5(GNAS):c.*42+10000C>T
NM_016592.5(GNAS):c.*42+9924G>A
NM_080425.4(GNAS):c.-106T>G rs79335353
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) rs587778382
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1394_1395insCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA (p.Pro465_Asp466insGlyProProArgSerArgAspArgLeuGlyArgGln)
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.2068+160_2068+161insTT rs142555685
NM_080425.4(GNAS):c.2069-5679A>C
NM_080425.4(GNAS):c.927C>T (p.Phe309=)
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.