ClinVar Miner

List of variants in gene GNAS studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.57241
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01067
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00631
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.1221C>G (p.Thr407=) rs200430001 0.00411
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_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.530+11G>A rs74474807 0.00017
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658 0.00013
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00011
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly) rs202131370 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.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00007
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 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.958G>A (p.Asp320Asn) rs201342585 0.00005
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu) rs140388147 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly) rs201290965 0.00004
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.585+12C>T rs1569027992 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00003
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762 0.00003
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp) rs766854994 0.00003
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu) rs1216268952 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.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser) rs752140999 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_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn) rs752141160 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
GNAS, GLN170ALA
GNAS, IVS3AS, A-G, -12
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter) rs2146300427
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) rs2146300461
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) rs2146304864
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) rs2146305127
NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu)
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) rs2146305299
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) rs2146305978
NM_000516.7(GNAS):c.1121G>A (p.Arg374His) rs2146306197
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs) rs2517296553
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg)
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) rs2146306658
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) rs397514456
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) rs2145916888
NM_000516.7(GNAS):c.124dup (p.Arg42fs) rs2145916852
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) rs2145916985
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.149A>C (p.Glu50Ala)
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) rs2146005656
NM_000516.7(GNAS):c.212+1_212+3del rs2146006354
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.226G>C (p.Asp76His)
NM_000516.7(GNAS):c.231del (p.Gln78fs) rs2516973680
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.258-6C>G rs2517075673
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg) rs1216764349
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn) rs2517076742
NM_000516.7(GNAS):c.286A>G (p.Lys96Glu)
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) rs137854531
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr) rs2146178784
NM_000516.7(GNAS):c.313-3C>G rs2146182033
NM_000516.7(GNAS):c.31_38del (p.Asp11fs)
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) rs2146182293
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) rs2090847079
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr) rs2146184005
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.3G>C (p.Met1Ile)
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) rs2145914268
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) rs2146184726
NM_000516.7(GNAS):c.411G>A (p.Val137=)
NM_000516.7(GNAS):c.415_418del (p.Asp139fs) rs2517085502
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.432+1G>T rs1555889131
NM_000516.7(GNAS):c.432+5G>A
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.433-2A>C
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter) rs2146208325
NM_000516.7(GNAS):c.445_446del (p.His149fs)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.460_461del (p.Trp154fs) rs2517134050
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.476T>C (p.Val159Ala)
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro) rs11554274
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) rs774895847
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn) rs2517140547
NM_000516.7(GNAS):c.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.585+1G>A rs2517227084
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) rs2146270332
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.658del (p.His220fs) rs2517241190
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) rs797045203
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.681G>T (p.Gln227His) rs137854533
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.695G>A (p.Arg232His) rs2146279167
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG rs2146283488
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) rs137854534
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.809_810del (p.Leu270fs)
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys) rs2146289639
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs) rs2146290056
NM_000516.7(GNAS):c.870C>T (p.Phe290=)
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) rs2091331588
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg) rs2517269338
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) rs863224876
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.950G>A (p.Arg317His) rs1369025856
NM_000516.7(GNAS):c.967G>C (p.Asp323His) rs2146294252
NM_000516.7(GNAS):c.970+1G>C
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.992A>T (p.Asp331Val)
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter)
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) rs2085661524
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu) rs749569559
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys) rs764608006
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
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.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1328C>T (p.Ser443Phe)
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe) rs2516392460
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser) rs2516392645
NM_080425.4(GNAS):c.1792C>T (p.Arg598Cys) rs1048901957
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys) rs74897360
NM_080425.4(GNAS):c.1848C>T (p.Phe616=)
NM_080425.4(GNAS):c.1851G>A (p.Gly617=)
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) rs2086410482
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) rs747636634
NM_080425.4(GNAS):c.285C>T (p.Ser95=) rs370319235
NM_080425.4(GNAS):c.334G>C (p.Gly112Arg)
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)
NM_080425.4(GNAS):c.568G>C (p.Gly190Arg)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn) rs577687095
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr) rs2516373638
NM_080425.4(GNAS):c.788C>T (p.Ala263Val)
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.910A>G (p.Ile304Val)
NM_080425.4(GNAS):c.932T>C (p.Ile311Thr)

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