ClinVar Miner

List of variants studied for Pseudohypoparathyroidism

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
GNAS, IVS3AS, A-G, -12
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu) rs2107040144
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
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.530+1G>T rs113029858
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.691C>T (p.Arg231Cys) rs1601162438
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)
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843

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