List of variants reported as pathogenic for Pseudohypoparathyroidism by OMIM

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
GNAS, IVS3AS, A-G, -12
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr)	rs2146305803
NM_000516.7(GNAS):c.112del (p.Arg38fs)	rs2145916486
NM_000516.7(GNAS):c.119_139+17del	rs2145916749
NM_000516.7(GNAS):c.1A>G (p.Met1Val)	rs137854530
NM_000516.7(GNAS):c.254dup (p.Asp85fs)	rs2146079806
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)	rs137854531
NM_000516.7(GNAS):c.302_303del (p.Glu101fs)	rs2146178462
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	rs137854532
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.617_618del (p.Gly206fs)	rs2146271310
NM_000516.7(GNAS):c.692G>A (p.Arg231His)	rs137854538
NM_000516.7(GNAS):c.725del (p.Thr242fs)	rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg)	rs137854534
NM_000516.7(GNAS):c.839+1G>C	rs1601164378
NM_000516.7(GNAS):c.860_861del (p.Val287fs)

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