List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, vascular type by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1509+2T>C	rs1553508039	0.00003
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)	rs1553507863
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)	rs587779637
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	rs587779692
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)	rs587779633
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)	rs1057518075
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)	rs587779691
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)	rs553203474
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)	rs1576468562
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)	rs587779589
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	rs587779533
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)	rs587779705
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650

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