ClinVar Miner

List of variants in gene GNAS reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_016592.5(GNAS):c.651T>A (p.Arg217=) rs75176432 0.00661
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_000516.7(GNAS):c.9C>T (p.Cys3=) rs200810763 0.00061
NM_000516.7(GNAS):c.219C>T (p.Gly73=) rs61737691 0.00052
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000516.7(GNAS):c.-23_-14del
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile)
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser) rs2146182909
NM_000516.7(GNAS):c.347_348dup (p.Val117fs)
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu) rs2090974560
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.531-2A>T rs2091270014
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_016592.5(GNAS):c.*42+10000C>T
NM_016592.5(GNAS):c.*42+9924G>A
NM_016592.5(GNAS):c.334G>C (p.Glu112Gln)
NM_016592.5(GNAS):c.364G>A (p.Glu122Lys)
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn)
NM_016592.5(GNAS):c.531C>G (p.Arg177=)
NM_080425.4(GNAS):c.1092C>G (p.Ala364=)
NM_080425.4(GNAS):c.111T>C (p.Ala37=)
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly)
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr) rs760016801
NM_080425.4(GNAS):c.2068+323_2068+353del rs759240829
NM_080425.4(GNAS):c.2069-5304_2069-5281del
NM_080425.4(GNAS):c.2069-5306C>T
NM_080425.4(GNAS):c.2069-5316_2069-5305del
NM_080425.4(GNAS):c.2069-5337C>A
NM_080425.4(GNAS):c.2069-5435G>A
NM_080425.4(GNAS):c.2069-5457AGA[2]
NM_080425.4(GNAS):c.2069-5515A>C
NM_080425.4(GNAS):c.2069-5657_2069-5646del
NM_080425.4(GNAS):c.2069-5679A>C
NM_080425.4(GNAS):c.207A>T (p.Gly69=)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696

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