ClinVar Miner

List of variants in gene GNAS reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_001077488.4(GNAS):c.1146_1148CAT[1] (p.Ile384del) rs1569032751
NM_001077488.4(GNAS):c.303A>C (p.Lys101Asn) rs1569015549
NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu) rs137854539
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.756C>G (p.Ser252Arg) rs1272546759
NM_001077488.4(GNAS):c.883C>T (p.Gln295Ter) rs863224876
NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) rs1135401777

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