ClinVar Miner

List of variants in gene GNAS studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 621
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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_016592.5(GNAS):c.*42+26G>A rs41305799 0.02679
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.586-42G>A rs1004902 0.01702
NM_000516.7(GNAS):c.257+159A>G rs80350825 0.01632
NM_000516.7(GNAS):c.213-268C>T rs76801208 0.01562
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_000516.7(GNAS):c.531-295C>G rs147630997 0.00742
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.219C>T (p.Gly73=) rs61737691 0.00052
NM_000516.7(GNAS):c.432+15G>A rs180919300 0.00041
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_000516.7(GNAS):c.159A>G (p.Lys53=) rs143563082 0.00020
NM_080425.4(GNAS):c.1427C>T (p.Ala476Val) rs587778383 0.00020
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala) rs776846313 0.00018
NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser) rs56371919 0.00018
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
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.213-11C>T rs369370389 0.00013
NM_000516.7(GNAS):c.1036C>T (p.Leu346=) rs139339659 0.00011
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg) rs200409817 0.00011
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.585+6C>T rs373084986 0.00009
NM_000516.7(GNAS):c.90G>A (p.Leu30=) rs144260225 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_080425.4(GNAS):c.1001G>A (p.Gly334Asp) rs535138966 0.00007
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
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_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000516.7(GNAS):c.120G>A (p.Thr40=) rs1341300840 0.00004
NM_000516.7(GNAS):c.130C>T (p.Leu44=) rs774061506 0.00004
NM_000516.7(GNAS):c.549C>T (p.Asp183=) rs765200985 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_000516.7(GNAS):c.1039-5C>T rs777248900 0.00003
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_000516.7(GNAS):c.669C>T (p.Asp223=) rs779338481 0.00003
NM_000516.7(GNAS):c.840-12C>A rs747780101 0.00003
NM_000516.7(GNAS):c.840-17G>A rs754265770 0.00003
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) rs376154152 0.00003
NM_080425.4(GNAS):c.2068+219A>G rs756257959 0.00003
NM_000516.7(GNAS):c.33C>T (p.Asp11=) rs759184113 0.00002
NM_000516.7(GNAS):c.718+7T>C rs1277969063 0.00002
NM_000516.7(GNAS):c.839+15C>T rs549481398 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.988A>G (p.Ile330Val) rs201597085 0.00002
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) rs764065202 0.00001
NM_000516.7(GNAS):c.114G>A (p.Arg38=) rs770697642 0.00001
NM_000516.7(GNAS):c.1173C>T (p.Tyr391=) rs1254063262 0.00001
NM_000516.7(GNAS):c.132G>A (p.Leu44=) rs759196471 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.252C>T (p.Ser84=) rs1395630112 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.312+19T>C rs764757413 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.531-7C>T rs572281182 0.00001
NM_000516.7(GNAS):c.570T>C (p.Tyr190=) rs758272654 0.00001
NM_000516.7(GNAS):c.579C>T (p.Ser193=) rs751232686 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_000516.7(GNAS):c.840-18C>T rs766660575 0.00001
NM_000516.7(GNAS):c.891C>T (p.Leu297=) rs767792339 0.00001
NM_000516.7(GNAS):c.984C>T (p.Pro328=) rs369498955 0.00001
NM_000516.7(GNAS):c.999C>T (p.Arg333=) rs777482454 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.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_?)del
NC_000020.10:g.(?_57466782)_(57466940_?)dup
NC_000020.10:g.(?_57466782)_(57485884_?)del
NC_000020.10:g.(?_57478707)_(57478866_?)del
NC_000020.10:g.(?_57484385)_(57485156_?)del
NC_000020.10:g.(?_57485079)_(57487993_?)del
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.-1_2del (p.Met1del)
NM_000516.7(GNAS):c.-23_-14del
NM_000516.7(GNAS):c.-4_2del (p.Met1del) rs1085307719
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) rs2146300008
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro)
NM_000516.7(GNAS):c.100A>T (p.Lys34Ter)
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp) rs794727048
NM_000516.7(GNAS):c.1011C>T (p.Ala337=)
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs) rs2146300173
NM_000516.7(GNAS):c.1017C>T (p.Tyr339=)
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) rs1944236486
NM_000516.7(GNAS):c.1020C>T (p.Phe340=)
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter) rs2146300427
NM_000516.7(GNAS):c.1032G>A (p.Glu344=)
NM_000516.7(GNAS):c.1038+1G>C
NM_000516.7(GNAS):c.1038+3G>A
NM_000516.7(GNAS):c.1039-127T>C rs234628
NM_000516.7(GNAS):c.1039-15T>C
NM_000516.7(GNAS):c.1039-18C>G
NM_000516.7(GNAS):c.1039-20C>A
NM_000516.7(GNAS):c.1039-4G>C rs575570315
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) rs2089386059
NM_000516.7(GNAS):c.1068dup (p.His357fs) rs2146305350
NM_000516.7(GNAS):c.1079A>G (p.Tyr360Cys)
NM_000516.7(GNAS):c.1093T>C (p.Cys365Arg)
NM_000516.7(GNAS):c.1093del (p.Cys365fs) rs1057518224
NM_000516.7(GNAS):c.1095C>T (p.Cys365=)
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1098T>C (p.Ala366=)
NM_000516.7(GNAS):c.10dup (p.Leu4fs)
NM_000516.7(GNAS):c.1100T>G (p.Val367Gly)
NM_000516.7(GNAS):c.1107T>A (p.Thr369=)
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs)
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)
NM_000516.7(GNAS):c.1121G>A (p.Arg374His)
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala) rs1555892189
NM_000516.7(GNAS):c.1128del (p.Phe376fs) rs2146306279
NM_000516.7(GNAS):c.112C>A (p.Arg38=) rs994421324
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr) rs764065202
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr) rs1064795798
NM_000516.7(GNAS):c.113G>C (p.Arg38Pro)
NM_000516.7(GNAS):c.1144A>T (p.Ile382Phe)
NM_000516.7(GNAS):c.1147del (p.Ile383fs)
NM_000516.7(GNAS):c.1154G>A (p.Arg385His)
NM_000516.7(GNAS):c.1156A>G (p.Met386Val)
NM_000516.7(GNAS):c.1161C>T (p.His387=)
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys)
NM_000516.7(GNAS):c.1166G>A (p.Arg389His)
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.121C>T (p.His41Tyr)
NM_000516.7(GNAS):c.123C>T (p.His41=)
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
NM_000516.7(GNAS):c.125G>A (p.Arg42His) rs1057520715
NM_000516.7(GNAS):c.126C>G (p.Arg42=) rs1277815386
NM_000516.7(GNAS):c.127C>T (p.Leu43=)
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000516.7(GNAS):c.129G>C (p.Leu43=) rs1373907464
NM_000516.7(GNAS):c.12C>T (p.Leu4=)
NM_000516.7(GNAS):c.133C>T (p.Leu45=)
NM_000516.7(GNAS):c.139+14G>C
NM_000516.7(GNAS):c.139+18G>A
NM_000516.7(GNAS):c.139+18G>C
NM_000516.7(GNAS):c.139+18G>T
NM_000516.7(GNAS):c.139+18del rs2145917890
NM_000516.7(GNAS):c.139+1G>A rs2089393181
NM_000516.7(GNAS):c.139+1G>C rs2089393181
NM_000516.7(GNAS):c.139+20_139+25dup
NM_000516.7(GNAS):c.139+23_139+26del
NM_000516.7(GNAS):c.139+23_139+53dup
NM_000516.7(GNAS):c.139+2T>C rs2145917348
NM_000516.7(GNAS):c.139+3_139+4delinsGC rs2145917462
NM_000516.7(GNAS):c.139+4A>C
NM_000516.7(GNAS):c.139+5GGGC[3]
NM_000516.7(GNAS):c.139+8_139+14dup
NM_000516.7(GNAS):c.139+9G>C rs1457378947
NM_000516.7(GNAS):c.140-15dup
NM_000516.7(GNAS):c.140-16T>G
NM_000516.7(GNAS):c.140-247_140-243del rs148549965
NM_000516.7(GNAS):c.140-4C>T
NM_000516.7(GNAS):c.140-6T>A
NM_000516.7(GNAS):c.150_154del (p.Glu50_Ser51insTer)
NM_000516.7(GNAS):c.153T>C (p.Ser51=)
NM_000516.7(GNAS):c.154G>C (p.Gly52Arg)
NM_000516.7(GNAS):c.157A>G (p.Lys53Glu) rs2146005743
NM_000516.7(GNAS):c.15G>A (p.Gly5=)
NM_000516.7(GNAS):c.166A>T (p.Ile56Phe)
NM_000516.7(GNAS):c.167T>C (p.Ile56Thr)
NM_000516.7(GNAS):c.175C>G (p.Gln59Glu)
NM_000516.7(GNAS):c.178A>G (p.Met60Val) rs2146005979
NM_000516.7(GNAS):c.189G>A (p.Leu63=)
NM_000516.7(GNAS):c.198T>G (p.Asn66Lys)
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.1A>T (p.Met1Leu) rs137854530
NM_000516.7(GNAS):c.1_2delinsGC (p.Met1Ala)
NM_000516.7(GNAS):c.201G>A (p.Gly67=) rs375763287
NM_000516.7(GNAS):c.201G>C (p.Gly67=)
NM_000516.7(GNAS):c.212+10A>T
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)
NM_000516.7(GNAS):c.21dup (p.Lys8Ter) rs2145914732
NM_000516.7(GNAS):c.220G>A (p.Glu74Lys)
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
NM_000516.7(GNAS):c.231G>A (p.Pro77=)
NM_000516.7(GNAS):c.234G>A (p.Gln78=)
NM_000516.7(GNAS):c.257+16del
NM_000516.7(GNAS):c.257+1G>T rs111541229
NM_000516.7(GNAS):c.257+4G>A
NM_000516.7(GNAS):c.258-19C>G
NM_000516.7(GNAS):c.258-20T>G
NM_000516.7(GNAS):c.258-6C>T
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) rs587778381
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile)
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)
NM_000516.7(GNAS):c.27C>T (p.Thr9=)
NM_000516.7(GNAS):c.283del (p.Ile95fs) rs2146178007
NM_000516.7(GNAS):c.285C>T (p.Ile95=)
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000516.7(GNAS):c.301G>A (p.Glu101Lys) rs2146178498
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.306G>T (p.Ala102=) rs117849691
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)
NM_000516.7(GNAS):c.30G>C (p.Glu10Asp)
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter) rs2146178875
NM_000516.7(GNAS):c.312+11G>T
NM_000516.7(GNAS):c.312+12C>T
NM_000516.7(GNAS):c.312+15C>T
NM_000516.7(GNAS):c.312+5G>A rs2146179050
NM_000516.7(GNAS):c.312+5G>C
NM_000516.7(GNAS):c.312+7G>A
NM_000516.7(GNAS):c.312+7G>C rs771111377
NM_000516.7(GNAS):c.312+7G>T
NM_000516.7(GNAS):c.312delA (p.Thr105fs) rs2146178942
NM_000516.7(GNAS):c.313-14T>G
NM_000516.7(GNAS):c.313-2A>C
NM_000516.7(GNAS):c.313-3_313-2del
NM_000516.7(GNAS):c.313-4T>C
NM_000516.7(GNAS):c.313-5T>C
NM_000516.7(GNAS):c.313-7T>C
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile) rs767946220
NM_000516.7(GNAS):c.315C>T (p.Thr105=)
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr)
NM_000516.7(GNAS):c.318T>G (p.Ile106Met)
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.31del (p.Asp11fs) rs2089376607
NM_000516.7(GNAS):c.322G>C (p.Ala108Pro)
NM_000516.7(GNAS):c.324C>G (p.Ala108=)
NM_000516.7(GNAS):c.324C>T (p.Ala108=)
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)
NM_000516.7(GNAS):c.342G>A (p.Val114=)
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser) rs2146182909
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.345C>T (p.Pro115=)
NM_000516.7(GNAS):c.347_348dup (p.Val117fs)
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.363C>T (p.Asn121=) rs2146183531
NM_000516.7(GNAS):c.36G>C (p.Gln12His)
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.393_394delinsTG (p.Leu132Val)
NM_000516.7(GNAS):c.393_394delinsTT (p.Ile131_Leu132=)
NM_000516.7(GNAS):c.408del (p.Asn136fs)
NM_000516.7(GNAS):c.415G>A (p.Asp139Asn)
NM_000516.7(GNAS):c.417C>T (p.Asp139=) rs1601117915
NM_000516.7(GNAS):c.432+10A>T
NM_000516.7(GNAS):c.432+11C>A
NM_000516.7(GNAS):c.432+11C>T
NM_000516.7(GNAS):c.432+14C>T
NM_000516.7(GNAS):c.432+16A>C
NM_000516.7(GNAS):c.432+17C>A
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.432+2T>C
NM_000516.7(GNAS):c.432+2T>G rs2146185827
NM_000516.7(GNAS):c.432+2_432+15del rs2146185615
NM_000516.7(GNAS):c.432+3A>G
NM_000516.7(GNAS):c.432+9C>T
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.433-14G>A
NM_000516.7(GNAS):c.433-16T>C
NM_000516.7(GNAS):c.433-3C>G
NM_000516.7(GNAS):c.433-9C>G rs777732047
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser)
NM_000516.7(GNAS):c.441del (p.Phe146_Tyr147insTer)
NM_000516.7(GNAS):c.445_446del (p.His149fs)
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.45G>A (p.Glu15=)
NM_000516.7(GNAS):c.461G>A (p.Trp154Ter) rs2146209197
NM_000516.7(GNAS):c.46G>A (p.Glu16Lys)
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu) rs2090974560
NM_000516.7(GNAS):c.474_475dup (p.Val159fs)
NM_000516.7(GNAS):c.476T>A (p.Val159Glu)
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
NM_000516.7(GNAS):c.479G>A (p.Arg160His)
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) rs372290095
NM_000516.7(GNAS):c.489C>T (p.Tyr163=)
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
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.501C>T (p.Asn167=)
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.506A>G (p.Tyr169Cys)
NM_000516.7(GNAS):c.507C>G (p.Tyr169Ter)
NM_000516.7(GNAS):c.507C>T (p.Tyr169=)
NM_000516.7(GNAS):c.508C>T (p.Gln170Ter)
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) rs2146211217
NM_000516.7(GNAS):c.524C>A (p.Ala175Asp)
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter) rs1569020396
NM_000516.7(GNAS):c.530+14A>G
NM_000516.7(GNAS):c.530+20C>T
NM_000516.7(GNAS):c.531-105_599del
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.531-13_531-11del
NM_000516.7(GNAS):c.531-15T>G
NM_000516.7(GNAS):c.531-19G>A
NM_000516.7(GNAS):c.531-269G>A rs234629
NM_000516.7(GNAS):c.531-2A>T rs2091270014
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg) rs2146264846
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu)
NM_000516.7(GNAS):c.550G>A (p.Val184Met)
NM_000516.7(GNAS):c.551T>C (p.Val184Ala)
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter) rs2089380075
NM_000516.7(GNAS):c.562del (p.Ala188fs) rs2091272733
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp)
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs)
NM_000516.7(GNAS):c.570T>G (p.Tyr190Ter)
NM_000516.7(GNAS):c.574C>A (p.Pro192Thr)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.576G>A (p.Pro192=)
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) rs2146265513
NM_000516.7(GNAS):c.585+10del
NM_000516.7(GNAS):c.585+11C>A
NM_000516.7(GNAS):c.585+12C>T
NM_000516.7(GNAS):c.585+13C>T
NM_000516.7(GNAS):c.585+17C>T
NM_000516.7(GNAS):c.585+3G>A
NM_000516.7(GNAS):c.585+55C>G rs3730172
NM_000516.7(GNAS):c.586-16C>T
NM_000516.7(GNAS):c.586-4T>G
NM_000516.7(GNAS):c.586-6T>C
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn)
NM_000516.7(GNAS):c.5G>T (p.Gly2Val)
NM_000516.7(GNAS):c.605T>C (p.Val202Ala)
NM_000516.7(GNAS):c.60T>G (p.Arg20=) rs1391764576
NM_000516.7(GNAS):c.617G>A (p.Gly206Glu)
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala)
NM_000516.7(GNAS):c.637C>T (p.Gln213Ter)
NM_000516.7(GNAS):c.647A>G (p.Lys216Arg)
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile)
NM_000516.7(GNAS):c.651C>T (p.Val217=)
NM_000516.7(GNAS):c.654C>A (p.Asn218Lys)
NM_000516.7(GNAS):c.659+11_659+14dup
NM_000516.7(GNAS):c.659+16C>T
NM_000516.7(GNAS):c.659+1G>A rs2146272908
NM_000516.7(GNAS):c.659+22dup
NM_000516.7(GNAS):c.660-10dup
NM_000516.7(GNAS):c.660-11C>T
NM_000516.7(GNAS):c.660-14C>G
NM_000516.7(GNAS):c.660-15C>T
NM_000516.7(GNAS):c.660-8C>T
NM_000516.7(GNAS):c.660-9C>T
NM_000516.7(GNAS):c.661dup (p.Met221fs)
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) rs2146277719
NM_000516.7(GNAS):c.66C>G (p.Ala22=)
NM_000516.7(GNAS):c.66C>T (p.Ala22=)
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp) rs2146278333
NM_000516.7(GNAS):c.679C>T (p.Gln227Ter) rs797045203
NM_000516.7(GNAS):c.682C>A (p.Arg228Ser)
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.692G>A (p.Arg231His) rs137854538
NM_000516.7(GNAS):c.694C>T (p.Arg232Cys)
NM_000516.7(GNAS):c.695G>A (p.Arg232His)
NM_000516.7(GNAS):c.697A>G (p.Lys233Glu)
NM_000516.7(GNAS):c.699G>A (p.Lys233=)
NM_000516.7(GNAS):c.702G>A (p.Trp234Ter)
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.706C>A (p.Gln236Lys)
NM_000516.7(GNAS):c.711C>T (p.Cys237=)
NM_000516.7(GNAS):c.717C>T (p.Asn239=)
NM_000516.7(GNAS):c.718+13_718+24del
NM_000516.7(GNAS):c.718+17T>C rs531267523
NM_000516.7(GNAS):c.718+18T>C
NM_000516.7(GNAS):c.718+19G>C
NM_000516.7(GNAS):c.718+6A>G
NM_000516.7(GNAS):c.718+8G>A
NM_000516.7(GNAS):c.718+9C>T rs2091304976
NM_000516.7(GNAS):c.719-15C>T
NM_000516.7(GNAS):c.719-1G>A
NM_000516.7(GNAS):c.719-6G>A
NM_000516.7(GNAS):c.719-6G>C
NM_000516.7(GNAS):c.72A>G (p.Lys24=) rs1600974959
NM_000516.7(GNAS):c.731T>A (p.Ile244Asn)
NM_000516.7(GNAS):c.732C>T (p.Ile244=)
NM_000516.7(GNAS):c.739G>A (p.Val247Met) rs2146284622
NM_000516.7(GNAS):c.743T>A (p.Val248Glu)
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.75G>A (p.Lys25=) rs1326256762
NM_000516.7(GNAS):c.75del (p.Ile26fs)
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly) rs1569029610
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter) rs886039677
NM_000516.7(GNAS):c.78C>T (p.Ile26=)
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) rs2146285468
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.794_795dup (p.Leu266fs)
NM_000516.7(GNAS):c.799C>T (p.Gln267Ter)
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs) rs1601164303
NM_000516.7(GNAS):c.81G>A (p.Glu27=)
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly) rs2146285803
NM_000516.7(GNAS):c.839+16G>A
NM_000516.7(GNAS):c.839+18C>T
NM_000516.7(GNAS):c.839+20A>G
NM_000516.7(GNAS):c.840-11C>T
NM_000516.7(GNAS):c.840-20C>T
NM_000516.7(GNAS):c.840-3T>G
NM_000516.7(GNAS):c.840-5T>C
NM_000516.7(GNAS):c.840A>G (p.Arg280=)
NM_000516.7(GNAS):c.848G>A (p.Arg283His)
NM_000516.7(GNAS):c.84G>A (p.Lys28=)
NM_000516.7(GNAS):c.854T>C (p.Ile285Thr)
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.864C>T (p.Ile288=)
NM_000516.7(GNAS):c.865del (p.Leu289fs)
NM_000516.7(GNAS):c.871C>T (p.Leu291Phe)
NM_000516.7(GNAS):c.877_878dup (p.Gln294fs)
NM_000516.7(GNAS):c.878A>C (p.Lys293Thr)
NM_000516.7(GNAS):c.878del (p.Lys293fs)
NM_000516.7(GNAS):c.87G>A (p.Gln29=)
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000516.7(GNAS):c.888_890del (p.Leu297del)
NM_000516.7(GNAS):c.889C>A (p.Leu297Ile)
NM_000516.7(GNAS):c.891_905del (p.Glu299_Ala303del) rs1555891728
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter) rs1555891743
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser) rs1064794045
NM_000516.7(GNAS):c.915A>G (p.Lys305=)
NM_000516.7(GNAS):c.917C>A (p.Ser306Ter)
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.91_93del (p.Gln31del) rs2145915963
NM_000516.7(GNAS):c.928del (p.Asp310fs) rs2146292888
NM_000516.7(GNAS):c.930C>T (p.Asp310=)
NM_000516.7(GNAS):c.938del (p.Pro313fs)
NM_000516.7(GNAS):c.93G>A (p.Gln31=)
NM_000516.7(GNAS):c.93G>C (p.Gln31His)
NM_000516.7(GNAS):c.952T>C (p.Tyr318His)
NM_000516.7(GNAS):c.96G>A (p.Lys32=)
NM_000516.7(GNAS):c.970+17C>T
NM_000516.7(GNAS):c.970+1G>A
NM_000516.7(GNAS):c.970+2T>C rs1601166850
NM_000516.7(GNAS):c.971-15T>C
NM_000516.7(GNAS):c.971-20T>C
NM_000516.7(GNAS):c.971-2A>G rs886039383
NM_000516.7(GNAS):c.971-4A>G
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)
NM_000516.7(GNAS):c.97del (p.Asp33fs)
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)
NM_000516.7(GNAS):c.996A>G (p.Pro332=)
NM_000516.7(GNAS):c.998G>A (p.Arg333His) rs1418870137
NM_016592.5(GNAS):c.*42+10000C>T
NM_016592.5(GNAS):c.*42+9924G>A
NM_016592.5(GNAS):c.192_195del (p.Phe64fs)
NM_016592.5(GNAS):c.206A>T (p.His69Leu)
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)
NM_016592.5(GNAS):c.334G>C (p.Glu112Gln)
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del)
NM_016592.5(GNAS):c.355dup (p.Ile119fs) rs779115304
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser) rs2145471509
NM_016592.5(GNAS):c.364G>A (p.Glu122Lys)
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)
NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del) rs778192531
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) rs1568906610
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) rs2145471865
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn)
NM_016592.5(GNAS):c.531C>G (p.Arg177=)
NM_016592.5(GNAS):c.536C>G (p.Pro179Arg)
NM_016592.5(GNAS):c.58dup (p.Leu20fs) rs1220130891
NM_016592.5(GNAS):c.592G>A (p.Asp198Asn)
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)
NM_016592.5(GNAS):c.639G>A (p.Glu213=)
NM_016592.5(GNAS):c.693G>A (p.Pro231=)
NM_080425.4(GNAS):c.-106T>G rs79335353
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu)
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=)
NM_080425.4(GNAS):c.111T>C (p.Ala37=)
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.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu)
NM_080425.4(GNAS):c.1211C>G (p.Ser404Cys)
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) rs587778382
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
NM_080425.4(GNAS):c.1335G>A (p.Ala445=) rs1442429952
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu)
NM_080425.4(GNAS):c.1381G>T (p.Ala461Ser)
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs)
NM_080425.4(GNAS):c.1447C>T (p.Arg483Trp)
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly)
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.1686C>T (p.Arg562=)
NM_080425.4(GNAS):c.1706_1708del (p.Val569del)
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys)
NM_080425.4(GNAS):c.179C>T (p.Pro60Leu)
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr)
NM_080425.4(GNAS):c.1923G>C (p.Leu641=)
NM_080425.4(GNAS):c.195C>A (p.Gly65=) rs750264533
NM_080425.4(GNAS):c.195C>T (p.Gly65=)
NM_080425.4(GNAS):c.200C>T (p.Ala67Val)
NM_080425.4(GNAS):c.2068+160_2068+161insTT rs142555685
NM_080425.4(GNAS):c.2068+323_2068+353del rs759240829
NM_080425.4(GNAS):c.2069-5126G>A
NM_080425.4(GNAS):c.2069-5153G>A
NM_080425.4(GNAS):c.2069-5205C>A
NM_080425.4(GNAS):c.2069-5231C>T
NM_080425.4(GNAS):c.2069-5298G>A
NM_080425.4(GNAS):c.2069-5304_2069-5281del
NM_080425.4(GNAS):c.2069-5306C>T
NM_080425.4(GNAS):c.2069-5316_2069-5305del
NM_080425.4(GNAS):c.2069-5336CGA[3]
NM_080425.4(GNAS):c.2069-5337C>A
NM_080425.4(GNAS):c.2069-5346_2069-5335del
NM_080425.4(GNAS):c.2069-5357_2069-5346del
NM_080425.4(GNAS):c.2069-5381G>A
NM_080425.4(GNAS):c.2069-5414GAA[7]
NM_080425.4(GNAS):c.2069-5435G>A
NM_080425.4(GNAS):c.2069-5457AGA[2]
NM_080425.4(GNAS):c.2069-5515A>C
NM_080425.4(GNAS):c.2069-5657_2069-5646del
NM_080425.4(GNAS):c.2069-5679A>C
NM_080425.4(GNAS):c.2069-5722A>T
NM_080425.4(GNAS):c.207A>G (p.Gly69=) rs1281541744
NM_080425.4(GNAS):c.207A>T (p.Gly69=)
NM_080425.4(GNAS):c.245del (p.Asn82fs)
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)
NM_080425.4(GNAS):c.416T>C (p.Met139Thr)
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg) rs942980796
NM_080425.4(GNAS):c.424G>T (p.Gly142Ter)
NM_080425.4(GNAS):c.455del (p.Gly152fs)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.66C>T (p.Ile22=)
NM_080425.4(GNAS):c.699dup (p.Gly234fs)
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.780_786del (p.Ser261fs)
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.927C>T (p.Phe309=)
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)
NR_185847.1(GNAS-AS1):n.749C>T

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