List of variants in gene COL5A2 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.322+1G>C	rs770598613	0.00014
NM_000393.5(COL5A2):c.1005+3A>G	rs375809563	0.00003
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)	rs376170776	0.00001
NC_000002.11:g.(?_189913190)_(189918176_?)del
NM_000393.5(COL5A2):c.1159-1G>A
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
NM_000393.5(COL5A2):c.1924-11T>C
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)	rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A	rs1576502045
NM_000393.5(COL5A2):c.2130+1G>A	rs2105579086
NM_000393.5(COL5A2):c.3309+1G>A	rs1553513657
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)	rs121912930
NM_000393.5(COL5A2):c.369+1G>T	rs1559104199
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	rs1553517323

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