List of variants studied for Ehlers-Danlos syndrome, vascular type by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1816-19T>C	rs114299724	0.00647
NM_000090.4(COL3A1):c.1150-13T>C	rs201839712	0.00006
NM_000090.4(COL3A1):c.1609-17T>G	rs1468376126	0.00001
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys)	rs121912923
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg)	rs1553508467
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)	rs1801183
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg)	rs1085307896
NM_000090.4(COL3A1):c.2824-9C>T	rs1553509204
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)	rs374527092
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp)	rs1553509401
NM_000090.4(COL3A1):c.3201+10C>G	rs372405344
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp)	rs1553509726
NM_000090.4(COL3A1):c.636+5G>A	rs587779688
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)	rs587779625

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