List of variants studied for Ehlers-Danlos syndrome by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu)	rs1198718473	0.00002
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)	rs777368013	0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)	rs867211079	0.00001
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp)	rs1688217809
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His)	rs1408351089
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)	rs755762264
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)	rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro)	rs1588479393
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn)	rs1834835178
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser)	rs1834838821
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)	rs900216804

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