List of variants reported as pathogenic for Ehlers-Danlos syndrome, vascular type by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp)	rs587779689
NM_000090.4(COL3A1):c.2798dup (p.Ser934fs)
NM_000090.4(COL3A1):c.3255+4del
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)	rs587779518
NM_000090.4(COL3A1):c.691-2A>G	rs1576463100

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