List of variants in gene GNAS studied for Pseudohypoparathyroidism type 1C

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.393C>T (p.Ile131=)	rs7121	0.56988
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	rs200910410	0.00008
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp)	rs2146299968
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg)	rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter)	rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)	rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter)	rs397514456
NM_000516.7(GNAS):c.313-3C>G
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)

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