List of variants reported as pathogenic for Pseudohypoparathyroidism type I A

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln)	rs2146300461
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr)	rs2146304864
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg)	rs2146305127
NM_000516.7(GNAS):c.1067G>A (p.Arg356His)	rs2146305299
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr)	rs2146305978
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu)	rs2146306658
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser)	rs2145916888
NM_000516.7(GNAS):c.127C>G (p.Leu43Val)	rs2145916985
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)	rs2146178784
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln)
NM_000516.7(GNAS):c.348dup (p.Val117fs)	rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.3G>T (p.Met1Ile)	rs2145914268
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)	rs2146208325
NM_000516.7(GNAS):c.476T>C (p.Val159Ala)
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)	rs11554274
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter)	rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	rs137854532
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter)	rs774895847
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys)	rs2146270332
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro)	rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs)	rs2146270735
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	rs1601162438
NM_000516.7(GNAS):c.692G>A (p.Arg231His)	rs137854538
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)	rs2091303526
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG	rs2146283488
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	rs137854535
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu)	rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His)	rs2146285582
NM_000516.7(GNAS):c.809_810del (p.Leu270fs)
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu)	rs2146292463

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