List of variants reported as likely pathogenic for Pseudopseudohypoparathyroidism

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Total variants: 9

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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.257+197_531-8del
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)	rs1569015549
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)	rs2146182293
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
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)	rs2085661524

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