ClinVar Miner

List of variants in gene GNAS reported as not provided by ITMI

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) rs79527543 0.01288
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_080425.4(GNAS):c.196G>A (p.Glu66Lys) rs200924357 0.00145
NM_080425.4(GNAS):c.1427C>T (p.Ala476Val) rs587778383 0.00020
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_080425.4(GNAS):c.1135G>C (p.Gly379Arg) rs587778389 0.00013
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) rs587778391 0.00006
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
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.988A>G (p.Ile330Val) rs201597085 0.00002
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) rs587778381
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
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.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.181G>A (p.Val61Ile) rs587778390
NM_080425.4(GNAS):c.311T>G (p.Phe104Cys) rs587778386
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696

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