ClinVar Miner

List of variants studied for McCune-Albright syndrome

Included ClinVar conditions (3):
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Total variants: 14
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HGVS dbSNP
NM_000516.5(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.5(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.5(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.5(GNAS):c.679C>A (p.Gln227Lys) rs797045203
NM_000516.5(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.5(GNAS):c.680A>T (p.Gln227Leu) rs121913494
NM_000516.5(GNAS):c.681G>T (p.Gln227His) rs137854533
NM_001077488.3(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_080425.3(GNAS):c.3072_3074CAT[1] (p.Ile1026del)

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