ClinVar Miner

List of variants in gene GNAS reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 479
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
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_016592.5(GNAS):c.10A>G (p.Arg4Gly) rs144308406 0.00019
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_080425.4(GNAS):c.1135G>C (p.Gly379Arg) rs587778389 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.585+6C>T rs373084986 0.00009
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) rs587778391 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 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.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_016592.5(GNAS):c.514G>A (p.Asp172Asn) rs376154152 0.00003
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.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.114G>A (p.Arg38=) rs770697642 0.00001
NM_000516.7(GNAS):c.1173C>T (p.Tyr391=) rs1254063262 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.531-7C>T rs572281182 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_000516.7(GNAS):c.891C>T (p.Leu297=) rs767792339 0.00001
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) rs770140447 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_000516.5(GNAS):c.433delG
NM_000516.7(GNAS):c.*10C>G
NM_000516.7(GNAS):c.*253T>C
NM_000516.7(GNAS):c.-18GCC[4]
NM_000516.7(GNAS):c.-18GCC[5]
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000516.7(GNAS):c.-30_-4del
NM_000516.7(GNAS):c.-3G>A
NM_000516.7(GNAS):c.-5C>T
NM_000516.7(GNAS):c.-7C>A
NM_000516.7(GNAS):c.-8C>T
NM_000516.7(GNAS):c.-9G>C
NM_000516.7(GNAS):c.1000G>A (p.Val334Met)
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) rs2146300008
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro)
NM_000516.7(GNAS):c.1017C>T (p.Tyr339=)
NM_000516.7(GNAS):c.1018_1020dup (p.Phe340_Ile341insPhe)
NM_000516.7(GNAS):c.1044C>T (p.Ile348=)
NM_000516.7(GNAS):c.105G>A (p.Gln35=)
NM_000516.7(GNAS):c.1062T>C (p.Asp354=)
NM_000516.7(GNAS):c.1084C>T (p.His362Tyr)
NM_000516.7(GNAS):c.1095C>T (p.Cys365=)
NM_000516.7(GNAS):c.10C>T (p.Leu4Phe)
NM_000516.7(GNAS):c.1104C>T (p.Asp368=)
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs)
NM_000516.7(GNAS):c.111_112delinsTA (p.Tyr37_Arg38=)
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.112C>A (p.Arg38=) rs994421324
NM_000516.7(GNAS):c.1155C>T (p.Arg385=)
NM_000516.7(GNAS):c.1161C>T (p.His387=)
NM_000516.7(GNAS):c.1170G>A (p.Gln390=)
NM_000516.7(GNAS):c.1184AAG[1] (p.Ter395=)
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
NM_000516.7(GNAS):c.126C>G (p.Arg42=) rs1277815386
NM_000516.7(GNAS):c.126C>T (p.Arg42=)
NM_000516.7(GNAS):c.129G>C (p.Leu43=) rs1373907464
NM_000516.7(GNAS):c.12C>G (p.Leu4=)
NM_000516.7(GNAS):c.133C>T (p.Leu45=)
NM_000516.7(GNAS):c.138G>A (p.Leu46=) rs760146185
NM_000516.7(GNAS):c.139+4A>C
NM_000516.7(GNAS):c.139+5G>A
NM_000516.7(GNAS):c.139+8_139+9del
NM_000516.7(GNAS):c.139+9G>A
NM_000516.7(GNAS):c.139+9_139+11del
NM_000516.7(GNAS):c.139G>A (p.Gly47Ser)
NM_000516.7(GNAS):c.13G>A (p.Gly5Arg)
NM_000516.7(GNAS):c.15G>A (p.Gly5=)
NM_000516.7(GNAS):c.201G>A (p.Gly67=) rs375763287
NM_000516.7(GNAS):c.21T>C (p.Ser7=)
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
NM_000516.7(GNAS):c.231G>T (p.Pro77=)
NM_000516.7(GNAS):c.253G>A (p.Asp85Asn)
NM_000516.7(GNAS):c.257+965A>G
NM_000516.7(GNAS):c.257+970_257+972del
NM_000516.7(GNAS):c.257+974C>T
NM_000516.7(GNAS):c.27C>G (p.Thr9=)
NM_000516.7(GNAS):c.285C>T (p.Ile95=)
NM_000516.7(GNAS):c.28G>A (p.Glu10Lys)
NM_000516.7(GNAS):c.306G>T (p.Ala102=) rs117849691
NM_000516.7(GNAS):c.30G>A (p.Glu10=)
NM_000516.7(GNAS):c.312+5G>A rs2146179050
NM_000516.7(GNAS):c.312+7G>A
NM_000516.7(GNAS):c.313-15C>G
NM_000516.7(GNAS):c.313-21_313-20insA
NM_000516.7(GNAS):c.324C>G (p.Ala108=)
NM_000516.7(GNAS):c.324C>T (p.Ala108=)
NM_000516.7(GNAS):c.330G>C (p.Met110Ile)
NM_000516.7(GNAS):c.336C>A (p.Asn112Lys)
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.380dup (p.Val128fs)
NM_000516.7(GNAS):c.402G>A (p.Val134=)
NM_000516.7(GNAS):c.419_420del (p.Asp139_Phe140insTer)
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser)
NM_000516.7(GNAS):c.420del (p.Phe140fs)
NM_000516.7(GNAS):c.438C>T (p.Phe146=)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.447T>C (p.His149=)
NM_000516.7(GNAS):c.453G>A (p.Lys151=)
NM_000516.7(GNAS):c.45G>A (p.Glu15=)
NM_000516.7(GNAS):c.489C>T (p.Tyr163=)
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn)
NM_000516.7(GNAS):c.53C>T (p.Ala18Val)
NM_000516.7(GNAS):c.550G>A (p.Val184Met)
NM_000516.7(GNAS):c.551T>C (p.Val184Ala)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.576G>A (p.Pro192=)
NM_000516.7(GNAS):c.585+3G>A
NM_000516.7(GNAS):c.586-4T>G
NM_000516.7(GNAS):c.60T>C (p.Arg20=)
NM_000516.7(GNAS):c.60T>G (p.Arg20=) rs1391764576
NM_000516.7(GNAS):c.645C>T (p.Asp215=)
NM_000516.7(GNAS):c.658C>T (p.His220Tyr)
NM_000516.7(GNAS):c.666dup (p.Asp223Ter)
NM_000516.7(GNAS):c.66C>G (p.Ala22=)
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.685G>A (p.Asp229Asn)
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.699G>A (p.Lys233=)
NM_000516.7(GNAS):c.6C>G (p.Gly2=)
NM_000516.7(GNAS):c.707A>C (p.Gln236Pro)
NM_000516.7(GNAS):c.711C>T (p.Cys237=)
NM_000516.7(GNAS):c.717C>T (p.Asn239=)
NM_000516.7(GNAS):c.718+8G>A
NM_000516.7(GNAS):c.719-10T>G
NM_000516.7(GNAS):c.722T>C (p.Val241Ala)
NM_000516.7(GNAS):c.72A>G (p.Lys24=) rs1600974959
NM_000516.7(GNAS):c.739G>A (p.Val247Met) rs2146284622
NM_000516.7(GNAS):c.747C>T (p.Ala249=)
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_000516.7(GNAS):c.763A>T (p.Met255Leu)
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000516.7(GNAS):c.780C>T (p.Asp260=)
NM_000516.7(GNAS):c.78C>A (p.Ile26=)
NM_000516.7(GNAS):c.78C>T (p.Ile26=)
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.81G>A (p.Glu27=)
NM_000516.7(GNAS):c.825C>T (p.Ser275=)
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter)
NM_000516.7(GNAS):c.840-5T>C
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)
NM_000516.7(GNAS):c.87G>A (p.Gln29=)
NM_000516.7(GNAS):c.88C>T (p.Leu30=)
NM_000516.7(GNAS):c.909T>G (p.Ala303=)
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) rs2146292463
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.93G>A (p.Gln31=)
NM_000516.7(GNAS):c.971-7T>C
NM_000516.7(GNAS):c.978C>T (p.Pro326=)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.997C>T (p.Arg333Cys)
NM_016592.5(GNAS):c.*4A>T
NM_016592.5(GNAS):c.114C>T (p.Ser38=)
NM_016592.5(GNAS):c.126C>T (p.Leu42=)
NM_016592.5(GNAS):c.127C>T (p.Arg43Cys)
NM_016592.5(GNAS):c.132C>A (p.Ala44=)
NM_016592.5(GNAS):c.206A>T (p.His69Leu)
NM_016592.5(GNAS):c.23A>C (p.Gln8Pro)
NM_016592.5(GNAS):c.240del (p.Glu81fs)
NM_016592.5(GNAS):c.245C>G (p.Ser82Trp)
NM_016592.5(GNAS):c.264C>G (p.His88Gln)
NM_016592.5(GNAS):c.266A>G (p.Glu89Gly)
NM_016592.5(GNAS):c.27G>A (p.Gln9=)
NM_016592.5(GNAS):c.286T>G (p.Ser96Ala)
NM_016592.5(GNAS):c.288C>T (p.Ser96=)
NM_016592.5(GNAS):c.303A>G (p.Leu101=)
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.308A>G (p.Tyr103Cys)
NM_016592.5(GNAS):c.309C>T (p.Tyr103=)
NM_016592.5(GNAS):c.315A>G (p.Glu105=)
NM_016592.5(GNAS):c.320T>G (p.Phe107Cys)
NM_016592.5(GNAS):c.322G>C (p.Asp108His)
NM_016592.5(GNAS):c.327C>T (p.Tyr109=)
NM_016592.5(GNAS):c.337_348del (p.111TESE[1])
NM_016592.5(GNAS):c.338_385dup (p.Glu128_Pro129insArgGluThrGluSerGluIleGluSerGluThrAspPheGluThrGlu)
NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del) rs587778387
NM_016592.5(GNAS):c.366G>A (p.Glu122=)
NM_016592.5(GNAS):c.366G>C (p.Glu122Asp)
NM_016592.5(GNAS):c.369C>A (p.Thr123=)
NM_016592.5(GNAS):c.375C>T (p.Phe125=)
NM_016592.5(GNAS):c.377A>G (p.Glu126Gly)
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)
NM_016592.5(GNAS):c.398C>T (p.Pro133Leu)
NM_016592.5(GNAS):c.3_5delinsAAT (p.Met1_Asp2delinsIleIle)
NM_016592.5(GNAS):c.412G>A (p.Glu138Lys)
NM_016592.5(GNAS):c.415A>T (p.Thr139Ser)
NM_016592.5(GNAS):c.417C>A (p.Thr139=)
NM_016592.5(GNAS):c.41G>A (p.Arg14His)
NM_016592.5(GNAS):c.41G>T (p.Arg14Leu)
NM_016592.5(GNAS):c.44A>G (p.His15Arg)
NM_016592.5(GNAS):c.453G>A (p.Lys151=)
NM_016592.5(GNAS):c.463T>G (p.Phe155Val)
NM_016592.5(GNAS):c.466G>A (p.Gly156Ser)
NM_016592.5(GNAS):c.479C>T (p.Thr160Ile)
NM_016592.5(GNAS):c.485G>A (p.Arg162His)
NM_016592.5(GNAS):c.505C>T (p.Arg169Ter)
NM_016592.5(GNAS):c.506G>A (p.Arg169Gln)
NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)
NM_016592.5(GNAS):c.536_543dup (p.Thr182fs)
NM_016592.5(GNAS):c.570A>G (p.Glu190=)
NM_016592.5(GNAS):c.575A>G (p.Glu192Gly)
NM_016592.5(GNAS):c.589G>A (p.Glu197Lys)
NM_016592.5(GNAS):c.58dup (p.Leu20fs) rs1220130891
NM_016592.5(GNAS):c.592G>A (p.Asp198Asn)
NM_016592.5(GNAS):c.595A>G (p.Lys199Glu)
NM_016592.5(GNAS):c.610C>G (p.Pro204Ala)
NM_016592.5(GNAS):c.611C>T (p.Pro204Leu)
NM_016592.5(GNAS):c.618G>A (p.Glu206=)
NM_016592.5(GNAS):c.621G>A (p.Ser207=)
NM_016592.5(GNAS):c.631A>G (p.Lys211Glu)
NM_016592.5(GNAS):c.633G>A (p.Lys211=)
NM_016592.5(GNAS):c.634GAG[1] (p.Glu213del)
NM_016592.5(GNAS):c.638A>G (p.Glu213Gly)
NM_016592.5(GNAS):c.639G>A (p.Glu213=)
NM_016592.5(GNAS):c.642G>T (p.Lys214Asn)
NM_016592.5(GNAS):c.647G>C (p.Arg216Pro)
NM_016592.5(GNAS):c.669G>A (p.Lys223=)
NM_016592.5(GNAS):c.685G>C (p.Ala229Pro)
NM_016592.5(GNAS):c.693G>C (p.Pro231=)
NM_016592.5(GNAS):c.699C>G (p.Ser233=)
NM_016592.5(GNAS):c.6T>C (p.Asp2=)
NM_016592.5(GNAS):c.701C>T (p.Pro234Leu)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_016592.5(GNAS):c.713G>T (p.Gly238Val)
NM_016592.5(GNAS):c.720C>G (p.Ile240Met)
NM_016592.5(GNAS):c.729G>A (p.Arg243=)
NM_016592.5(GNAS):c.72A>G (p.Ile24Met)
NM_016592.5(GNAS):c.73G>A (p.Gly25Ser)
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
NM_080425.4(GNAS):c.-58G>A
NM_080425.4(GNAS):c.-5G>A
NM_080425.4(GNAS):c.-70T>C
NM_080425.4(GNAS):c.1031A>G (p.Asp344Gly)
NM_080425.4(GNAS):c.1035G>C (p.Lys345Asn)
NM_080425.4(GNAS):c.1042C>A (p.Arg348=)
NM_080425.4(GNAS):c.1047A>G (p.Ala349=)
NM_080425.4(GNAS):c.1052_1053del (p.Arg351fs)
NM_080425.4(GNAS):c.1055C>G (p.Pro352Arg)
NM_080425.4(GNAS):c.1064A>G (p.Glu355Gly)
NM_080425.4(GNAS):c.107C>A (p.Ala36Glu)
NM_080425.4(GNAS):c.109G>A (p.Ala37Thr)
NM_080425.4(GNAS):c.10C>T (p.Arg4Cys)
NM_080425.4(GNAS):c.1103C>G (p.Ala368Gly)
NM_080425.4(GNAS):c.1112G>A (p.Gly371Glu)
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1142C>T (p.Pro381Leu)
NM_080425.4(GNAS):c.1148C>A (p.Ala383Asp)
NM_080425.4(GNAS):c.1149C>T (p.Ala383=)
NM_080425.4(GNAS):c.1150G>A (p.Gly384Arg)
NM_080425.4(GNAS):c.1156G>A (p.Ala386Thr)
NM_080425.4(GNAS):c.115C>T (p.Pro39Ser)
NM_080425.4(GNAS):c.1163C>A (p.Ala388Glu)
NM_080425.4(GNAS):c.1163C>G (p.Ala388Gly)
NM_080425.4(GNAS):c.1164G>A (p.Ala388=)
NM_080425.4(GNAS):c.1167T>A (p.Asp389Glu)
NM_080425.4(GNAS):c.117del (p.Gly40fs)
NM_080425.4(GNAS):c.1199C>A (p.Ala400Asp)
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn)
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) rs587778382
NM_080425.4(GNAS):c.1255G>A (p.Asp419Asn)
NM_080425.4(GNAS):c.1255G>T (p.Asp419Tyr)
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
NM_080425.4(GNAS):c.1276G>A (p.Ala426Thr)
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1277C>G (p.Ala426Gly)
NM_080425.4(GNAS):c.1280C>A (p.Ala427Asp)
NM_080425.4(GNAS):c.1289A>G (p.Asp430Gly)
NM_080425.4(GNAS):c.128C>A (p.Pro43His)
NM_080425.4(GNAS):c.1294G>A (p.Gly432Arg)
NM_080425.4(GNAS):c.1299_1334del (p.Ala436_Pro447del)
NM_080425.4(GNAS):c.1300G>T (p.Ala434Ser)
NM_080425.4(GNAS):c.1302C>A (p.Ala434=)
NM_080425.4(GNAS):c.1304C>T (p.Pro435Leu)
NM_080425.4(GNAS):c.1306G>T (p.Ala436Ser)
NM_080425.4(GNAS):c.1307_1342del (p.Ala436_Pro447del)
NM_080425.4(GNAS):c.1307_1376delinsACGCCCCAGCCGATCCCGACTCCGGGGCGGTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG (p.Ala436_Pro459delinsAspAlaProAlaAspProAspSerGlyAlaValProAspAlaProAlaAspProAspSerGlyAlaAlaProAspAlaProAlaAspProAspSerGlyAlaAlaArg)
NM_080425.4(GNAS):c.1309G>T (p.Ala437Ser)
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[1] (p.443SGAAPDAPADPD[1])
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[3] (p.Asp466_Ala467insSerGlyAlaAlaProAspAlaProAlaAspProAsp)
NM_080425.4(GNAS):c.1336_1337insTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGG (p.Ala445_Ala446insValProAspAlaProAlaAspProAspSerGlyAla)
NM_080425.4(GNAS):c.1337C>T (p.Ala446Val)
NM_080425.4(GNAS):c.1352C>G (p.Ala451Gly)
NM_080425.4(GNAS):c.1359C>A (p.Pro453=)
NM_080425.4(GNAS):c.1359C>T (p.Pro453=)
NM_080425.4(GNAS):c.1362_1363delinsTG (p.Ser455Ala)
NM_080425.4(GNAS):c.1364C>T (p.Ser455Phe)
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer)
NM_080425.4(GNAS):c.1380C>T (p.Asp460=)
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATTC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspSerAsp)
NM_080425.4(GNAS):c.1398T>C (p.Asp466=)
NM_080425.4(GNAS):c.1405G>A (p.Ala469Thr)
NM_080425.4(GNAS):c.1408G>A (p.Ala470Thr)
NM_080425.4(GNAS):c.1420C>T (p.Pro474Ser)
NM_080425.4(GNAS):c.1440T>A (p.Ala480=)
NM_080425.4(GNAS):c.1445C>T (p.Thr482Ile)
NM_080425.4(GNAS):c.1447C>T (p.Arg483Trp)
NM_080425.4(GNAS):c.1448G>A (p.Arg483Gln)
NM_080425.4(GNAS):c.1448G>T (p.Arg483Leu)
NM_080425.4(GNAS):c.1453G>A (p.Ala485Thr)
NM_080425.4(GNAS):c.1473G>T (p.Ala491=)
NM_080425.4(GNAS):c.1479C>T (p.Asp493=)
NM_080425.4(GNAS):c.1491C>T (p.Pro497=)
NM_080425.4(GNAS):c.1509T>C (p.Ser503=)
NM_080425.4(GNAS):c.1511C>T (p.Ala504Val)
NM_080425.4(GNAS):c.1513A>G (p.Thr505Ala)
NM_080425.4(GNAS):c.1516C>T (p.Arg506Trp)
NM_080425.4(GNAS):c.1517G>A (p.Arg506Gln)
NM_080425.4(GNAS):c.1530C>T (p.Val510=)
NM_080425.4(GNAS):c.1532G>C (p.Arg511Pro)
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp)
NM_080425.4(GNAS):c.1539G>A (p.Ala513=)
NM_080425.4(GNAS):c.1571G>A (p.Arg524His)
NM_080425.4(GNAS):c.1589C>G (p.Pro530Arg)
NM_080425.4(GNAS):c.158C>G (p.Pro53Arg)
NM_080425.4(GNAS):c.1598C>G (p.Pro533Arg)
NM_080425.4(GNAS):c.1620G>T (p.Pro540=)
NM_080425.4(GNAS):c.1622C>G (p.Pro541Arg)
NM_080425.4(GNAS):c.1628_1639del (p.Pro543_Thr546del)
NM_080425.4(GNAS):c.1629G>A (p.Pro543=)
NM_080425.4(GNAS):c.163C>T (p.His55Tyr)
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr) rs760016801
NM_080425.4(GNAS):c.1648G>A (p.Ala550Thr)
NM_080425.4(GNAS):c.1654C>T (p.Arg552Trp)
NM_080425.4(GNAS):c.1664C>A (p.Ser555Tyr)
NM_080425.4(GNAS):c.1677C>T (p.Arg559=)
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe)
NM_080425.4(GNAS):c.1682G>A (p.Arg561His)
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
NM_080425.4(GNAS):c.168C>T (p.Asn56=)
NM_080425.4(GNAS):c.1691A>G (p.Tyr564Cys)
NM_080425.4(GNAS):c.1700A>G (p.Glu567Gly)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_080425.4(GNAS):c.1719C>T (p.Asp573=)
NM_080425.4(GNAS):c.1720G>T (p.Asp574Tyr)
NM_080425.4(GNAS):c.1725C>T (p.Asp575=)
NM_080425.4(GNAS):c.1729A>G (p.Ser577Gly)
NM_080425.4(GNAS):c.1732G>A (p.Gly578Arg)
NM_080425.4(GNAS):c.1737_1739del (p.Asp579del)
NM_080425.4(GNAS):c.1768C>A (p.Arg590Ser)
NM_080425.4(GNAS):c.1784G>A (p.Arg595Gln)
NM_080425.4(GNAS):c.1787G>A (p.Arg596Gln)
NM_080425.4(GNAS):c.178C>A (p.Pro60Thr)
NM_080425.4(GNAS):c.1796G>A (p.Arg599His)
NM_080425.4(GNAS):c.1797C>A (p.Arg599=)
NM_080425.4(GNAS):c.1797C>T (p.Arg599=)
NM_080425.4(GNAS):c.1803A>C (p.Arg601=)
NM_080425.4(GNAS):c.1818C>T (p.Asn606=)
NM_080425.4(GNAS):c.1819T>C (p.Leu607=)
NM_080425.4(GNAS):c.1821A>T (p.Leu607Phe)
NM_080425.4(GNAS):c.1825C>T (p.Arg609Cys)
NM_080425.4(GNAS):c.1830C>A (p.Asn610Lys)
NM_080425.4(GNAS):c.183C>T (p.Val61=)
NM_080425.4(GNAS):c.184G>A (p.Glu62Lys)
NM_080425.4(GNAS):c.1860C>G (p.Phe620Leu)
NM_080425.4(GNAS):c.1860C>T (p.Phe620=)
NM_080425.4(GNAS):c.1861G>C (p.Gly621Arg)
NM_080425.4(GNAS):c.1864C>G (p.Arg622Gly)
NM_080425.4(GNAS):c.1876C>A (p.Pro626Thr)
NM_080425.4(GNAS):c.1879C>G (p.Gln627Glu)
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr)
NM_080425.4(GNAS):c.1893G>A (p.Ser631=)
NM_080425.4(GNAS):c.1895G>A (p.Arg632His)
NM_080425.4(GNAS):c.1923G>C (p.Leu641=)
NM_080425.4(GNAS):c.1932G>A (p.Lys644=)
NM_080425.4(GNAS):c.1944G>A (p.Met648Ile)
NM_080425.4(GNAS):c.1945C>T (p.Arg649Cys)
NM_080425.4(GNAS):c.195C>A (p.Gly65=) rs750264533
NM_080425.4(GNAS):c.195C>T (p.Gly65=)
NM_080425.4(GNAS):c.1971C>G (p.Ala657=)
NM_080425.4(GNAS):c.1980C>T (p.Arg660=)
NM_080425.4(GNAS):c.1985A>G (p.Glu662Gly)
NM_080425.4(GNAS):c.2000del (p.Lys667fs)
NM_080425.4(GNAS):c.2002C>T (p.Leu668Phe)
NM_080425.4(GNAS):c.2008G>A (p.Asp670Asn)
NM_080425.4(GNAS):c.2008G>T (p.Asp670Tyr)
NM_080425.4(GNAS):c.2026G>A (p.Glu676Lys)
NM_080425.4(GNAS):c.2042T>C (p.Met681Thr)
NM_080425.4(GNAS):c.2050C>A (p.His684Asn)
NM_080425.4(GNAS):c.2068+6G>A
NM_080425.4(GNAS):c.2069-3905CCG[10]
NM_080425.4(GNAS):c.234T>C (p.Phe78=)
NM_080425.4(GNAS):c.265G>A (p.Gly89Arg)
NM_080425.4(GNAS):c.285C>T (p.Ser95=)
NM_080425.4(GNAS):c.286C>G (p.Pro96Ala)
NM_080425.4(GNAS):c.286C>T (p.Pro96Ser)
NM_080425.4(GNAS):c.28A>G (p.Asn10Asp)
NM_080425.4(GNAS):c.318_319inv (p.Glu107Lys)
NM_080425.4(GNAS):c.322C>A (p.Gln108Lys)
NM_080425.4(GNAS):c.326C>A (p.Pro109His)
NM_080425.4(GNAS):c.326C>T (p.Pro109Leu)
NM_080425.4(GNAS):c.32A>G (p.Asn11Ser)
NM_080425.4(GNAS):c.355G>C (p.Glu119Gln)
NM_080425.4(GNAS):c.397G>C (p.Ala133Pro)
NM_080425.4(GNAS):c.426A>G (p.Gly142=)
NM_080425.4(GNAS):c.445C>A (p.Pro149Thr)
NM_080425.4(GNAS):c.455G>A (p.Gly152Glu)
NM_080425.4(GNAS):c.48C>G (p.Arg16=)
NM_080425.4(GNAS):c.514A>G (p.Arg172Gly)
NM_080425.4(GNAS):c.550C>G (p.Leu184Val)
NM_080425.4(GNAS):c.556C>G (p.Pro186Ala)
NM_080425.4(GNAS):c.563G>A (p.Gly188Asp)
NM_080425.4(GNAS):c.581T>C (p.Val194Ala)
NM_080425.4(GNAS):c.586G>A (p.Gly196Arg)
NM_080425.4(GNAS):c.598G>A (p.Glu200Lys)
NM_080425.4(GNAS):c.624A>G (p.Ala208=)
NM_080425.4(GNAS):c.628G>A (p.Ala210Thr)
NM_080425.4(GNAS):c.628G>T (p.Ala210Ser)
NM_080425.4(GNAS):c.645C>G (p.Gly215=)
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_080425.4(GNAS):c.677T>C (p.Phe226Ser)
NM_080425.4(GNAS):c.699T>A (p.Phe233Leu)
NM_080425.4(GNAS):c.6C>T (p.Gly2=)
NM_080425.4(GNAS):c.701G>C (p.Gly234Ala)
NM_080425.4(GNAS):c.703GAC[1] (p.Asp236del)
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.723G>T (p.Gly241=)
NM_080425.4(GNAS):c.724C>T (p.Leu242Phe)
NM_080425.4(GNAS):c.731G>A (p.Arg244Gln)
NM_080425.4(GNAS):c.745G>C (p.Val249Leu)
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
NM_080425.4(GNAS):c.768G>C (p.Ala256=)
NM_080425.4(GNAS):c.768G>T (p.Ala256=)
NM_080425.4(GNAS):c.774C>G (p.Val258=)
NM_080425.4(GNAS):c.778G>T (p.Ala260Ser)
NM_080425.4(GNAS):c.783G>A (p.Ser261=)
NM_080425.4(GNAS):c.785G>T (p.Ser262Ile)
NM_080425.4(GNAS):c.78C>A (p.Pro26=)
NM_080425.4(GNAS):c.78C>G (p.Pro26=)
NM_080425.4(GNAS):c.796C>T (p.Leu266Phe)
NM_080425.4(GNAS):c.805G>A (p.Ala269Thr)
NM_080425.4(GNAS):c.813C>T (p.Asn271=)
NM_080425.4(GNAS):c.816G>A (p.Ala272=)
NM_080425.4(GNAS):c.854C>T (p.Ser285Phe)
NM_080425.4(GNAS):c.879T>C (p.Ser293=)
NM_080425.4(GNAS):c.888G>T (p.Thr296=)
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.923del (p.Pro308fs)
NM_080425.4(GNAS):c.925T>C (p.Phe309Leu)
NM_080425.4(GNAS):c.927C>T (p.Phe309=)
NM_080425.4(GNAS):c.939C>G (p.Ser313Arg)
NM_080425.4(GNAS):c.943C>T (p.Pro315Ser)
NM_080425.4(GNAS):c.945C>T (p.Pro315=)
NM_080425.4(GNAS):c.957C>T (p.Asp319=)
NM_080425.4(GNAS):c.969C>T (p.Val323=)
NM_080425.4(GNAS):c.970A>C (p.Asn324His)
NM_080425.4(GNAS):c.990C>T (p.Ile330=)
NR_002785.2(GNAS-AS1):n.819+1831C>T

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