ClinVar Miner

List of variants in gene GNAS studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000516.7(GNAS):c.433-18T>C rs3730170 0.07025
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_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_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
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_080425.4(GNAS):c.1427C>T (p.Ala476Val) rs587778383 0.00020
NM_016592.5(GNAS):c.10A>G (p.Arg4Gly) rs144308406 0.00019
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_000516.7(GNAS):c.530+10C>T rs199499878 0.00016
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) rs111796234 0.00014
NM_080425.4(GNAS):c.1135G>C (p.Gly379Arg) rs587778389 0.00013
NM_000516.7(GNAS):c.585+6C>T rs373084986 0.00009
NM_000516.7(GNAS):c.90G>A (p.Leu30=) rs144260225 0.00008
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) rs587778391 0.00006
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_080425.4(GNAS):c.11G>A (p.Arg4His) rs545306394 0.00003
NM_080425.4(GNAS):c.1538C>T (p.Ala513Val) rs587778384 0.00003
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) rs1178804802 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000516.7(GNAS):c.138G>A (p.Leu46=) rs760146185
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.257+5G>A rs758268936
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) rs587778381
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_016592.5(GNAS):c.332C>T (p.Thr111Ile) rs587778388
NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del) rs587778387
NM_080425.4(GNAS):c.1178G>A (p.Arg393Lys) rs587778385
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.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer)
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro)
NM_080425.4(GNAS):c.181G>A (p.Val61Ile) rs587778390
NM_080425.4(GNAS):c.305dup (p.Met102fs)
NM_080425.4(GNAS):c.311T>G (p.Phe104Cys) rs587778386
NM_080425.4(GNAS):c.543C>T (p.Val181=)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg)
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) rs2145566990
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu)

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.