List of variants in gene GNAS studied for McCune-Albright syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)	rs746247739	0.00007
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	rs11554273	0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)	rs1569032751
NM_000516.7(GNAS):c.231del (p.Gln78fs)
NM_000516.7(GNAS):c.432+1G>T	rs1555889131
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	rs11554273
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly)	rs11554273
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)	rs121913495
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys)	rs797045203
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)	rs121913494
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu)	rs121913494
NM_000516.7(GNAS):c.681G>T (p.Gln227His)	rs137854533

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