ClinVar Miner

List of variants in gene GNAS reported by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) rs1569031518
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.178A>G (p.Met60Val) rs2146005979
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.258-6C>G
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
NM_000516.7(GNAS):c.329T>C (p.Met110Thr) rs2146182600
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829

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