ClinVar Miner

List of variants reported as pathogenic for McCune-Albright syndrome by GeneReviews

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser) rs11554273
NM_001077488.4(GNAS):c.604C>G (p.Arg202Gly) rs11554273
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.682C>A (p.Gln228Lys) rs797045203
NM_001077488.4(GNAS):c.683A>G (p.Gln228Arg) rs121913494
NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
NM_001077488.4(GNAS):c.684G>T (p.Gln228His) rs137854533

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