ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006662.3(SRCAP):c.306+4C>T	rs58723456	0.02136
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)	rs79597785	0.01517
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=)	rs140511721	0.00185

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