List of variants studied for Ehlers-Danlos syndrome, vascular type by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)	rs587779542
NM_000090.4(COL3A1):c.3320G>C (p.Gly1107Ala)
NM_000090.4(COL3A1):c.609del (p.Gly204fs)
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp)	rs587779518
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)	rs1393544920
NM_000090.4(COL3A1):c.80-2A>T	rs2153501340

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