List of variants in gene GNAS reported as likely pathogenic for Pseudopseudohypoparathyroidism

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.1039-1G>A	rs2146304851
NM_000516.7(GNAS):c.212+1_212+3del	rs2146006354
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)	rs1569015549
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)	rs2146183586
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)	rs1272546759
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)	rs2091331588

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