List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for Ehlers-Danlos syndrome, classic type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5137-11T>C	rs183495554	0.00512
NM_000093.5(COL5A1):c.*2429T>C	rs56031840	0.00148
NM_000093.5(COL5A1):c.*42C>G	rs374547961	0.00041
NM_000093.5(COL5A1):c.5370+11C>T	rs764644830	0.00032
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)	rs201871481	0.00012
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	rs147398633	0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)	rs747549921	0.00011
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)	rs148006741	0.00010
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)	rs147434147	0.00007
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=)	rs190912679	0.00004
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)	rs776748227	0.00001
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)	rs148669237

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