List of variants reported as uncertain significance for Ehlers-Danlos syndrome, vascular type by MGZ Medical Genetics Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)	rs547373542	0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)	rs1016767830	0.00001
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu)
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)

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