List of variants reported as pathogenic for Ehlers-Danlos syndrome, vascular type by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	rs1576465155
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter)	rs587779527
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)	rs587779695
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys)	rs2153503430
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)	rs794728057
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650

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