List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)	rs545973022	0.00033
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)	rs777625241	0.00001
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)	rs1584325552
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)	rs1584329740
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)	rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)	rs1584318956
NM_000093.5(COL5A1):c.3114+1G>A	rs1838169083
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)	rs786205100
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)	rs1319735007
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)	rs1588621711
NM_000093.5(COL5A1):c.655-1917_690del
NM_000093.5(COL5A1):c.849del (p.Glu284fs)	rs1588477255
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)	rs1686209873
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)	rs1564161224

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