ClinVar Miner

List of variants in gene GNAS reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	rs11554273	0.00001
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829

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