List of variants studied for Ehlers-Danlos syndrome, vascular type by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)	rs371344739	0.00009
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)	rs755528878	0.00002
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg)	rs1688231206
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro)	rs770525372
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)	rs1576471840
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)	rs1158116878
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)	rs587779565
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	rs121912926
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	rs1553507614

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