ClinVar Miner

List of variants studied for Pseudohypoparathyroidism type I A by Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829

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