List of variants studied for Ehlers-Danlos syndrome, vascular type by Cohesion Phenomics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)	rs1801184	0.27758
NM_000090.4(COL3A1):c.1978-11C>T	rs13306272	0.23521
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	rs1800255	0.21080
NM_000090.4(COL3A1):c.1816-14G>C	rs7579815	0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)	rs7579903	0.15955
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)	rs80302667	0.01481

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