ClinVar Miner

List of variants reported as pathogenic for Pseudohypoparathyroidism

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Total variants: 18
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HGVS dbSNP
GNAS, 1-BP DEL, 348C
GNAS, 1-BP DEL, C, EXON 1
GNAS, 1-BP INS, A, EXON 3
GNAS, 12-BP INS, NT1107
GNAS, 2-BP DEL, CT, EXON 4
GNAS, 2-BP DEL, GA, EXON 8
GNAS, 2-BP DEL, TG, EXON 11
GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY
GNAS, IVS3AS, A-G, -12
NM_001077488.4(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_001077488.4(GNAS):c.299T>C (p.Leu100Pro) rs137854531
NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu) rs137854539
NM_001077488.4(GNAS):c.496C>T (p.Arg166Cys) rs137854532
NM_001077488.4(GNAS):c.568_571del (p.Asp190fs) rs587776829
NM_001077488.4(GNAS):c.695G>A (p.Arg232His) rs137854538
NM_001077488.4(GNAS):c.728del (p.Thr243fs)
NM_001077488.4(GNAS):c.753C>G (p.Ser251Arg) rs137854534
NM_001077488.4(GNAS):c.842+1G>C

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