List of variants in gene GNAS reported as pathogenic by GeneDx

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.-4_2del (p.Met1del)	rs1085307719
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)	rs2089386059
NM_000516.7(GNAS):c.1093del (p.Cys365fs)	rs1057518224
NM_000516.7(GNAS):c.125G>A (p.Arg42His)	rs1057520715
NM_000516.7(GNAS):c.139+2T>C	rs2145917348
NM_000516.7(GNAS):c.1A>T (p.Met1Leu)	rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)	rs2146184314
NM_000516.7(GNAS):c.432+1G>A	rs1555889131
NM_000516.7(GNAS):c.432+2_432+15del	rs2146185615
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	rs137854532
NM_000516.7(GNAS):c.494G>A (p.Arg165His)	rs2090976265
NM_000516.7(GNAS):c.518_521del (p.Asp173fs)	rs2146211217
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter)	rs1569020396
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs)
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)	rs1555891584
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter)	rs886039677
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs)	rs1601164303
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter)	rs1555891743
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser)	rs1064794045
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	rs2089384365
NM_000516.7(GNAS):c.971-2A>G	rs886039383

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