ClinVar Miner

List of variants in gene GNAS studied for Pseudopseudohypoparathyroidism

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.57241
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp) rs766854994 0.00003
GNAS, GLN170ALA
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs) rs2517296553
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.212+1_212+3del rs2146006354
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) rs2146182293
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) rs2090847079
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000516.7(GNAS):c.3G>C (p.Met1Ile)
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys) rs2146289639
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) rs2091331588
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) rs2085661524
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu) rs749569559
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe) rs2516392460
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) rs747636634
NM_080425.4(GNAS):c.285C>T (p.Ser95=) rs370319235
NM_080425.4(GNAS):c.932T>C (p.Ile311Thr)

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