ClinVar Miner

List of variants in gene combination GH-LCR, GH1 reported as pathogenic for Ateleiotic dwarfism

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.245_246del (p.Glu82fs) rs1907472729
NM_000515.5(GH1):c.52del (p.Leu18fs) rs2509253023
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219

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