ClinVar Miner

List of variants in gene GNAS reported by GeneDx

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Gene type:
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Total variants: 140
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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.*42+26G>A rs41305799 0.02679
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_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_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.1395A>C (p.Pro465=) rs56213454 0.00027
NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser) rs56371919 0.00018
NM_080425.4(GNAS):c.2068+219A>G rs756257959 0.00003
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) rs764065202 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 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
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.-4_2del (p.Met1del) rs1085307719
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) rs2146300008
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) rs1944236486
NM_000516.7(GNAS):c.1039-127T>C rs234628
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) rs2089386059
NM_000516.7(GNAS):c.1093del (p.Cys365fs) rs1057518224
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.1154G>A (p.Arg385His)
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys)
NM_000516.7(GNAS):c.125G>A (p.Arg42His) rs1057520715
NM_000516.7(GNAS):c.139+2T>C rs2145917348
NM_000516.7(GNAS):c.140-247_140-243del rs148549965
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.257+1G>T rs111541229
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.319G>C (p.Val107Leu) rs1057524389
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) rs2090847079
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.432+2_432+15del rs2146185615
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
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.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) rs2146211217
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter) rs1569020396
NM_000516.7(GNAS):c.531-269G>A rs234629
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu)
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.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) rs2146265513
NM_000516.7(GNAS):c.585+55C>G rs3730172
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn)
NM_000516.7(GNAS):c.605T>C (p.Val202Ala)
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala)
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile)
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) rs2146277719
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp) rs2146278333
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.739G>A (p.Val247Met) rs2146284622
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.784C>T (p.Gln262Ter) rs886039677
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) rs2146285468
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs) rs1601164303
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
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.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.971-2A>G rs886039383
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.998G>A (p.Arg333His) rs1418870137
NM_016592.5(GNAS):c.192_195del (p.Phe64fs)
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del) rs2145470921
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg)
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.367A>G (p.Thr123Ala) rs1131691907
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) rs2145471865
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)
NM_016592.5(GNAS):c.58dup (p.Leu20fs) rs1220130891
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)
NM_080425.4(GNAS):c.-106T>G rs79335353
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) rs1448481528
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu)
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu)
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs)
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys)
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr)
NM_080425.4(GNAS):c.200C>T (p.Ala67Val)
NM_080425.4(GNAS):c.2068+160_2068+161insTT rs142555685
NM_080425.4(GNAS):c.207A>G (p.Gly69=) rs1281541744
NM_080425.4(GNAS):c.245del (p.Asn82fs)
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.780_786del (p.Ser261fs)
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala) rs1057524198

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