ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1 by MVZ Medizinische Genetik Mainz

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.1494G>A (p.Arg498=)	rs998597371
NM_000093.5(COL5A1):c.1773G>A (p.Gln591=)	rs2490600214
NM_000093.5(COL5A1):c.3475-6C>G	rs2490813935

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