List of variants in gene GNAS reported as pathogenic by PreventionGenetics, part of Exact Sciences

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
NM_000516.7(GNAS):c.312+5G>A	rs2146179050
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.419_420del (p.Asp139_Phe140insTer)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
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.773G>A (p.Arg258Gln)	rs1555891584
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter)
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	rs2089384365

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