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: 17

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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.852+2T>C	rs201314784	0.00001
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)	rs2469127921
NM_000090.4(COL3A1):c.1348-2A>G	rs2469130010
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)	rs2469135354
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser)	rs2153502803
NM_000090.4(COL3A1):c.2121+1G>C	rs587779675
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	rs113485686
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys)	rs1553509193
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)	rs1553509404
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)	rs1559061706
NM_000090.4(COL3A1):c.3302G>C (p.Gly1101Ala)
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)	rs587779536
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	rs587779596
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)	rs2153502094
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)	rs587779673

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