List of variants in gene GNAS reported as likely pathogenic for parathyroid gland disorder

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	rs11554273	0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)	rs1135401777	0.00001
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp)	rs2146299968
NM_000516.7(GNAS):c.1039-1G>A	rs2146304851
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)	rs137854537
NM_000516.7(GNAS):c.124dup (p.Arg42fs)	rs2145916852
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser)	rs2146005656
NM_000516.7(GNAS):c.212+1_212+3del	rs2146006354
NM_000516.7(GNAS):c.212+3_212+6del	rs2089974938
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)	rs1569015549
NM_000516.7(GNAS):c.31_38del (p.Asp11fs)
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)	rs2146183586
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del)	rs2146184726
NM_000516.7(GNAS):c.415_418del (p.Asp139fs)
NM_000516.7(GNAS):c.432+5G>A
NM_000516.7(GNAS):c.446A>G (p.His149Arg)	rs2146208770
NM_000516.7(GNAS):c.470_472del (p.Glu157del)	rs2146209517
NM_000516.7(GNAS):c.585+1G>A
NM_000516.7(GNAS):c.658del (p.His220fs)
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)	rs1272546759
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg)	rs2146289554
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)	rs2091331588
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter)	rs863224876
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)
NM_080425.4(GNAS):c.754_761del (p.Ser252fs)	rs2086303843

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