List of variants in gene GNAS reported as pathogenic for Pseudohypoparathyroidism type 1B

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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: 8

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HGVS	dbSNP	gnomAD frequency
GNAS, 4.7-KB DEL
NG_016194.2:g.[6012_6117gom;19440_19569lom]
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)	rs1569032751
NM_000516.7(GNAS):c.139+1G>C	rs2089393181
NM_000516.7(GNAS):c.296del (p.Leu99fs)	rs2090829910
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.85C>T (p.Gln29Ter)	rs1057518907

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