ClinVar Miner

List of variants in gene CEP76, PSMG2 studied for Short stature

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024899.4(CEP76):c.985G>A (p.Ala329Thr) rs146808596 0.00024
NM_024899.4(CEP76):c.108A>G (p.Ile36Met) rs773662461 0.00001
NM_024899.4(CEP76):c.1874G>A (p.Arg625His) rs1363884891

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