ClinVar Miner

List of variants reported as pathogenic for Pseudohypoparathyroidism by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
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.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829

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