List of variants reported as pathogenic for Ehlers-Danlos syndrome, vascular type by All of Us Research Program, National Institutes of Health

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.105dup (p.Gly36fs)
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)	rs375737772
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	rs121912923
NM_000090.4(COL3A1):c.2114_2121+4delinsCT
NM_000090.4(COL3A1):c.222C>A (p.Cys74Ter)
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	rs112371422
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)	rs2153503975
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650

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