ClinVar Miner

List of variants in gene GNAS reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 25
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HGVS dbSNP gnomAD frequency
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.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_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_000516.7(GNAS):c.9C>T (p.Cys3=) rs200810763 0.00061
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) rs111796234 0.00014
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg) rs200409817 0.00011
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.1001G>A (p.Gly334Asp) rs535138966 0.00007
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.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) rs376154152 0.00003
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_080425.4(GNAS):c.1335G>A (p.Ala445=) rs1442429952
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1680C>A (p.Gly560=) rs1314612220
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.821C>T (p.Pro274Leu) rs769524256
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del) rs2145568472

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