ClinVar Miner

List of variants in gene GNAS reported by Eurofins Ntd Llc (ga)

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_000516.7(GNAS):c.433-18T>C rs3730170 0.07025
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_000516.7(GNAS):c.312+4C>T rs371359864 0.00001
NM_016592.5(GNAS):c.477_514del (p.Thr160fs) rs886042434 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp) rs794727048
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala) rs1555892189
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000516.7(GNAS):c.312+7G>C rs771111377
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly) rs1569029610

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