List of variants in gene GNAS reported as pathogenic by Ambry Genetics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)	rs2089386059
NM_000516.7(GNAS):c.140-1G>C
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.432+1G>A	rs1555889131
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535
NM_016592.5(GNAS):c.263dup (p.His88fs)	rs1555868362

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