ClinVar Miner

List of variants in gene GNAS reported as likely pathogenic

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Total variants: 71
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HGVS dbSNP gnomAD frequency
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_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
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.1006dup (p.Arg336fs) rs1569031388
NM_000516.7(GNAS):c.1038+1G>C
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs)
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr) rs1064795798
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1154G>A (p.Arg385His)
NM_000516.7(GNAS):c.124dup (p.Arg42fs) rs2145916852
NM_000516.7(GNAS):c.140G>A (p.Gly47Asp)
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) rs2146005656
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala) rs797044895
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
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.231del (p.Gln78fs)
NM_000516.7(GNAS):c.257+1G>T rs111541229
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
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.310G>T (p.Glu104Ter) rs2146178875
NM_000516.7(GNAS):c.312+5G>C
NM_000516.7(GNAS):c.313-2A>C
NM_000516.7(GNAS):c.313-3_313-2del
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile) rs767946220
NM_000516.7(GNAS):c.31del (p.Asp11fs) rs2089376607
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) rs2146184726
NM_000516.7(GNAS):c.415_418del (p.Asp139fs)
NM_000516.7(GNAS):c.420del (p.Phe140fs)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu) rs2090974560
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.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg) rs2146264846
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.585+1G>A
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.7(GNAS):c.658del (p.His220fs)
NM_000516.7(GNAS):c.659+1G>A rs2146272908
NM_000516.7(GNAS):c.666dup (p.Asp223Ter)
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) rs121913494
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.742G>A (p.Val248Met) rs1555891562
NM_000516.7(GNAS):c.743T>A (p.Val248Glu)
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
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.819C>G (p.Phe273Leu)
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly) rs2146285803
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) rs2091331588
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) rs863224876
NM_000516.7(GNAS):c.880dup (p.Gln294fs) rs2146290960
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.970+2T>C rs1601166850
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) rs1568906610
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843

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