List of variants in gene GNAS reported as pathogenic by Johns Hopkins Genomics, Johns Hopkins University

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter)	rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter)	rs1601115231
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.530+1G>T	rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829

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