ClinVar Miner

List of variants reported for LEOPARD syndrome 1 by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456

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