ClinVar Miner

List of variants in gene GNAS reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00017
NM_080425.4(GNAS):c.1686C>T (p.Arg562=) rs747759524 0.00011
NM_000516.7(GNAS):c.585+6C>T rs373084986 0.00009
NM_016592.5(GNAS):c.206A>T (p.His69Leu) rs756711953 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_000516.7(GNAS):c.717C>T (p.Asn239=) rs141552288 0.00005
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu) rs140388147 0.00004
NM_000516.7(GNAS):c.585+3G>A rs79863120 0.00004
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) rs376154152 0.00003
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser) rs761504648 0.00003
NM_080425.4(GNAS):c.195C>T (p.Gly65=) rs750264533 0.00003
NM_080425.4(GNAS):c.2068+219A>G rs756257959 0.00003
NM_000516.7(GNAS):c.257+4G>A rs1426847315 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_080425.4(GNAS):c.1352C>A (p.Ala451Asp) rs1381864620 0.00002
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys) rs1358580640 0.00002
NM_080425.4(GNAS):c.200C>T (p.Ala67Val) rs779963876 0.00002
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) rs764065202 0.00001
NM_000516.7(GNAS):c.1156A>G (p.Met386Val) rs2091384119 0.00001
NM_000516.7(GNAS):c.139+4A>C rs1568979988 0.00001
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile) rs901936182 0.00001
NM_000516.7(GNAS):c.312+4C>T rs371359864 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.415G>A (p.Asp139Asn) rs753210957 0.00001
NM_000516.7(GNAS):c.550G>A (p.Val184Met) rs1027670523 0.00001
NM_000516.7(GNAS):c.651C>T (p.Val217=) rs772404963 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_016592.5(GNAS):c.477_514del (p.Thr160fs) rs886042434 0.00001
NM_016592.5(GNAS):c.689C>T (p.Ser230Phe) rs1455756498 0.00001
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu) rs895175482 0.00001
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu) rs1200605369 0.00001
NM_080425.4(GNAS):c.2069-5298G>A rs1172803856 0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
NM_080425.4(GNAS):c.730C>T (p.Arg244Ter) rs1446835451 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NC_000020.10:g.(?_57466782)_(57466940_?)dup
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) rs2146300008
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro) rs2146300008
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp) rs794727048
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) rs1944236486
NM_000516.7(GNAS):c.1038+3G>A rs2146300665
NM_000516.7(GNAS):c.1079A>G (p.Tyr360Cys) rs2517295183
NM_000516.7(GNAS):c.1093T>C (p.Cys365Arg) rs2146305645
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1100T>G (p.Val367Gly) rs2517295905
NM_000516.7(GNAS):c.1117C>T (p.Arg373Cys)
NM_000516.7(GNAS):c.1117del (p.Arg373fs) rs2146306053
NM_000516.7(GNAS):c.1120C>T (p.Arg374Cys) rs2146306169
NM_000516.7(GNAS):c.1121G>A (p.Arg374His) rs2146306197
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala) rs1555892189
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr) rs764065202
NM_000516.7(GNAS):c.113G>C (p.Arg38Pro)
NM_000516.7(GNAS):c.1144A>T (p.Ile382Phe) rs2517297329
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys) rs2146306963
NM_000516.7(GNAS):c.1166G>A (p.Arg389His)
NM_000516.7(GNAS):c.121C>T (p.His41Tyr) rs2516800364
NM_000516.7(GNAS):c.139+23_139+53dup
NM_000516.7(GNAS):c.139+3_139+4delinsGC rs2145917462
NM_000516.7(GNAS):c.140-6T>A rs762240816
NM_000516.7(GNAS):c.154G>C (p.Gly52Arg) rs2146005656
NM_000516.7(GNAS):c.166A>T (p.Ile56Phe) rs2516902735
NM_000516.7(GNAS):c.167T>C (p.Ile56Thr) rs2516902778
NM_000516.7(GNAS):c.175C>G (p.Gln59Glu)
NM_000516.7(GNAS):c.178A>G (p.Met60Val) rs2146005979
NM_000516.7(GNAS):c.198T>G (p.Asn66Lys) rs2516903084
NM_000516.7(GNAS):c.213-14TC[2]
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.217G>T (p.Gly73Cys) rs587778380
NM_000516.7(GNAS):c.220G>A (p.Glu74Lys) rs2146079053
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) rs587778381
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg) rs1216764349
NM_000516.7(GNAS):c.301G>A (p.Glu101Lys) rs2146178498
NM_000516.7(GNAS):c.305C>T (p.Ala102Val) rs1131691999
NM_000516.7(GNAS):c.30G>C (p.Glu10Asp)
NM_000516.7(GNAS):c.312+7G>C rs771111377
NM_000516.7(GNAS):c.313-5T>C
NM_000516.7(GNAS):c.318T>G (p.Ile106Met) rs2517082047
NM_000516.7(GNAS):c.319G>A (p.Val107Met) rs1057524389
NM_000516.7(GNAS):c.319G>C (p.Val107Leu) rs1057524389
NM_000516.7(GNAS):c.322G>C (p.Ala108Pro)
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) rs2090847079
NM_000516.7(GNAS):c.329T>C (p.Met110Thr) rs2146182600
NM_000516.7(GNAS):c.332G>A (p.Ser111Asn) rs1239045963
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.36G>C (p.Gln12His)
NM_000516.7(GNAS):c.393_394delinsTT (p.Ile131_Leu132=) rs2517084757
NM_000516.7(GNAS):c.432+3A>G rs2517086306
NM_000516.7(GNAS):c.433-3C>G
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser) rs2146208470
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.458T>A (p.Leu153Gln) rs2146209100
NM_000516.7(GNAS):c.458T>G (p.Leu153Arg) rs2146209100
NM_000516.7(GNAS):c.46G>A (p.Glu16Lys) rs2516796853
NM_000516.7(GNAS):c.476T>A (p.Val159Glu) rs2146209750
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro) rs11554274
NM_000516.7(GNAS):c.499_501del (p.Asn167del) rs2090976492
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys) rs2146210724
NM_000516.7(GNAS):c.506A>G (p.Tyr169Cys) rs2517138644
NM_000516.7(GNAS):c.524C>A (p.Ala175Asp) rs77096466
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu) rs2517224880
NM_000516.7(GNAS):c.551T>C (p.Val184Ala) rs2091271548
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp) rs2517226041
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys) rs2517226164
NM_000516.7(GNAS):c.574C>A (p.Pro192Thr) rs2146265400
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) rs2146265513
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn) rs2146269895
NM_000516.7(GNAS):c.5G>T (p.Gly2Val) rs2516795072
NM_000516.7(GNAS):c.605T>C (p.Val202Ala) rs2146270866
NM_000516.7(GNAS):c.617G>A (p.Gly206Glu)
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala) rs2517239383
NM_000516.7(GNAS):c.647A>G (p.Lys216Arg)
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile) rs1430900196
NM_000516.7(GNAS):c.654C>A (p.Asn218Lys) rs775747511
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) rs2146277719
NM_000516.7(GNAS):c.694C>T (p.Arg232Cys)
NM_000516.7(GNAS):c.695G>A (p.Arg232His) rs2146279167
NM_000516.7(GNAS):c.697A>G (p.Lys233Glu) rs1176666574
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.706C>A (p.Gln236Lys) rs2146279616
NM_000516.7(GNAS):c.718+6A>G
NM_000516.7(GNAS):c.731T>A (p.Ile244Asn) rs2517259078
NM_000516.7(GNAS):c.739G>A (p.Val247Met) rs2146284622
NM_000516.7(GNAS):c.746C>T (p.Ala249Val)
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.756C>A (p.Ser252Arg) rs2146284866
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly) rs1569029610
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) rs2146285468
NM_000516.7(GNAS):c.840-3T>G rs2146289294
NM_000516.7(GNAS):c.840A>G (p.Arg280=)
NM_000516.7(GNAS):c.848G>A (p.Arg283His) rs2146289693
NM_000516.7(GNAS):c.854T>C (p.Ile285Thr)
NM_000516.7(GNAS):c.871C>T (p.Leu291Phe) rs11554278
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000516.7(GNAS):c.888_890del (p.Leu297del) rs2517269804
NM_000516.7(GNAS):c.889C>A (p.Leu297Ile) rs2146291282
NM_000516.7(GNAS):c.91_93del (p.Gln31del) rs2145915963
NM_000516.7(GNAS):c.93G>C (p.Gln31His) rs780295677
NM_000516.7(GNAS):c.952T>C (p.Tyr318His) rs2146293753
NM_000516.7(GNAS):c.976C>T (p.Pro326Ser) rs2146299204
NM_000516.7(GNAS):c.979G>A (p.Glu327Lys)
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn) rs1255226034
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.988G>A (p.Glu330Lys)
NM_000516.7(GNAS):c.989A>G (p.Glu330Gly) rs2517283603
NM_000516.7(GNAS):c.998G>A (p.Arg333His) rs1418870137
NM_016592.5(GNAS):c.192_195del (p.Phe64fs) rs908942214
NM_016592.5(GNAS):c.263A>G (p.His88Arg)
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del) rs2145470921
NM_016592.5(GNAS):c.269del (p.Glu90fs)
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg) rs1236818121
NM_016592.5(GNAS):c.334G>C (p.Glu112Gln) rs201307445
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del) rs755419386
NM_016592.5(GNAS):c.355dup (p.Ile119fs) rs779115304
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser) rs2145471509
NM_016592.5(GNAS):c.366G>C (p.Glu122Asp) rs936448388
NM_016592.5(GNAS):c.367A>G (p.Thr123Ala) rs1131691907
NM_016592.5(GNAS):c.377A>G (p.Glu126Gly)
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del) rs747093000
NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del) rs778192531
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) rs2145471865
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs) rs2516259011
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn) rs2085660624
NM_016592.5(GNAS):c.536C>G (p.Pro179Arg)
NM_016592.5(GNAS):c.58dup (p.Leu20fs) rs1220130891
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln) rs2516260489
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu) rs2516378809
NM_080425.4(GNAS):c.1072G>A (p.Ala358Thr)
NM_080425.4(GNAS):c.1074A>G (p.Ala358=)
NM_080425.4(GNAS):c.1092C>G (p.Ala364=) rs765192652
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) rs1448481528
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla) rs1395514695
NM_080425.4(GNAS):c.1211C>G (p.Ser404Cys)
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg) rs773948481
NM_080425.4(GNAS):c.1381G>T (p.Ala461Ser)
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs) rs2086369592
NM_080425.4(GNAS):c.1447C>T (p.Arg483Trp)
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly) rs1203509666
NM_080425.4(GNAS):c.1546G>A (p.Ala516Thr)
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly) rs1413730276
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr) rs760016801
NM_080425.4(GNAS):c.1680C>A (p.Gly560=) rs1314612220
NM_080425.4(GNAS):c.1706_1708del (p.Val569del)
NM_080425.4(GNAS):c.179C>T (p.Pro60Leu)
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr) rs2516359755
NM_080425.4(GNAS):c.1952A>G (p.Glu651Gly)
NM_080425.4(GNAS):c.2048C>T (p.Thr683Met)
NM_080425.4(GNAS):c.2069-5205C>A rs1600948501
NM_080425.4(GNAS):c.2069-5336CGA[3]
NM_080425.4(GNAS):c.2069-5423G>C
NM_080425.4(GNAS):c.2069-5515A>C rs2088998901
NM_080425.4(GNAS):c.207A>G (p.Gly69=) rs1281541744
NM_080425.4(GNAS):c.207A>T (p.Gly69=) rs1281541744
NM_080425.4(GNAS):c.245del (p.Asn82fs) rs2516363323
NM_080425.4(GNAS):c.256A>G (p.Arg86Gly)
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala) rs1385439564
NM_080425.4(GNAS):c.416T>C (p.Met139Thr) rs2516366234
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg) rs942980796
NM_080425.4(GNAS):c.455del (p.Gly152fs)
NM_080425.4(GNAS):c.66C>T (p.Ile22=)
NM_080425.4(GNAS):c.780_786del (p.Ser261fs) rs2516373437
NM_080425.4(GNAS):c.809C>T (p.Ala270Val)
NM_080425.4(GNAS):c.821C>T (p.Pro274Leu) rs769524256
NM_080425.4(GNAS):c.849C>A (p.Ser283Arg)
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala) rs1057524198
NM_080425.4(GNAS):c.945del (p.Ala316fs)
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del) rs2145568472
NM_080425.4(GNAS):c.986C>A (p.Pro329Gln) rs756015757

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.