List of variants in gene GNAS reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser)	rs2146182909
NM_000516.7(GNAS):c.347_348dup (p.Val117fs)
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.531-2A>T	rs2091270014
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535

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