ClinVar Miner

List of variants in gene GNAS studied for not specified

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.57241
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000516.7(GNAS):c.433-18T>C rs3730170 0.07025
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.05749
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_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) rs79527543 0.01195
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01067
NM_080425.4(GNAS):c.525T>C (p.Ser175=) rs114255910 0.00782
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
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.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_000516.7(GNAS):c.9C>T (p.Cys3=) rs200810763 0.00070
NM_016592.5(GNAS):c.10A>G (p.Arg4Gly) rs144308406 0.00017
NM_080425.4(GNAS):c.1427C>T (p.Ala476Val) rs587778383 0.00017
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00017
NM_000516.7(GNAS):c.530+10C>T rs199499878 0.00015
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_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00011
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.1462G>A (p.Ala488Thr) rs552813440 0.00007
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) rs587778391 0.00006
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.854C>T (p.Ser285Phe) rs202104005 0.00005
NM_080425.4(GNAS):c.11G>A (p.Arg4His) rs545306394 0.00004
NM_080425.4(GNAS):c.1538C>T (p.Ala513Val) rs587778384 0.00003
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro) rs760016801 0.00003
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
NM_000516.7(GNAS):c.570T>C (p.Tyr190=) rs758272654 0.00001
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) rs1178804802 0.00001
NM_080425.4(GNAS):c.543C>T (p.Val181=) rs752434296 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000516.7(GNAS):c.138G>A (p.Leu46=) rs760146185
NM_000516.7(GNAS):c.212+3A>T
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.257+5G>A rs758268936
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) rs587778381
NM_000516.7(GNAS):c.432+14C>G rs758468758
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.66C>G (p.Ala22=)
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter)
NM_016592.5(GNAS):c.240C>G (p.Pro80=)
NM_016592.5(GNAS):c.332C>T (p.Thr111Ile) rs587778388
NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del) rs587778387
NM_080425.4(GNAS):c.1164G>T (p.Ala388=) rs746212874
NM_080425.4(GNAS):c.1178G>A (p.Arg393Lys) rs587778385
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) rs587778382
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer) rs1360978129
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1394_1395insCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA (p.Pro465_Asp466insGlyProProArgSerArgAspArgLeuGlyArgGln)
NM_080425.4(GNAS):c.181G>A (p.Val61Ile) rs587778390
NM_080425.4(GNAS):c.305dup (p.Met102fs) rs1369818311
NM_080425.4(GNAS):c.311T>G (p.Phe104Cys) rs587778386
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg) rs747005037
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) rs2145566990
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu) rs766422930

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