List of variants reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)	rs200590188	0.00011
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)	rs147329970	0.00007
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)	rs535161301	0.00001
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)	rs1462929012	0.00001
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)	rs370547479
NM_000093.5(COL5A1):c.2810G>T (p.Gly937Val)
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)	rs2490800946
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)	rs759624894
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)	rs955050889

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