ClinVar Miner

List of variants reported as uncertain significance for Phelan-McDermid syndrome by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys)	rs1555905749
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro)	rs1555905307

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