ClinVar Miner

List of variants in gene GNAS studied for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) rs2089386059
NM_000516.7(GNAS):c.140-1G>C
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala) rs797044895
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.670G>T (p.Val224Leu)
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.742G>A (p.Val248Met) rs1555891562
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000516.7(GNAS):c.920A>T (p.Lys307Met)
NM_016592.5(GNAS):c.263dup (p.His88fs) rs1555868362
NM_016592.5(GNAS):c.409C>T (p.Pro137Ser) rs779401973
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn)
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
NM_080425.4(GNAS):c.1473G>A (p.Ala491=)
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1663T>C (p.Ser555Pro)
NM_080425.4(GNAS):c.1700A>G (p.Glu567Gly)
NM_080425.4(GNAS):c.1826G>A (p.Arg609His)
NM_080425.4(GNAS):c.570T>C (p.Gly190=)
NM_080425.4(GNAS):c.607C>G (p.Gln203Glu)
NM_080425.4(GNAS):c.757A>G (p.Ser253Gly)
NM_080425.4(GNAS):c.917G>A (p.Gly306Glu)
NM_080425.4(GNAS):c.969C>T (p.Val323=)

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