ClinVar Miner

Variants in gene GNAS with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 38
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HGVS dbSNP gnomAD frequency
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.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_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_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.1428C>G (p.Ala476=) rs559714658 0.00013
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00011
NM_000516.7(GNAS):c.18C>T (p.Asn6=) rs543390941 0.00010
NM_000516.7(GNAS):c.90G>A (p.Leu30=) rs144260225 0.00008
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.927C>T (p.Phe309=) rs777431088 0.00003
NM_000516.7(GNAS):c.699G>A (p.Lys233=) rs780331721 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
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.324C>T (p.Ala108=) rs559448095
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
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.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915

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