ClinVar Miner

List of variants reported as pathogenic for Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006662.3(SRCAP):c.1319del	rs2506627905
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	rs2151300418

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