List of variants in gene GNAS reported as likely pathogenic by Invitae

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1038+1G>C
NM_000516.7(GNAS):c.312+5G>C
NM_000516.7(GNAS):c.313-2A>C
NM_000516.7(GNAS):c.313-3_313-2del
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg)	rs2146264846
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.659+1G>A	rs2146272908
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	rs2146278555
NM_000516.7(GNAS):c.743T>A (p.Val248Glu)
NM_000516.7(GNAS):c.794G>A (p.Arg265His)	rs2146285582
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)	rs2146291027
NM_000516.7(GNAS):c.970+2T>C	rs1601166850

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