List of variants reported as likely 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.1996G>A (p.Gly666Ser)	rs755528878	0.00002
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)	rs794728054	0.00001
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
NM_000090.4(COL3A1):c.2121+1G>C	rs587779675
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)	rs1559061706
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)	rs587779536
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)	rs587779673

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