ClinVar Miner

List of variants in gene GNAS reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_000516.6(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_016592.4(GNAS):c.*587G>C rs137854533

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