List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	rs113452150	0.00092
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)	rs147398633	0.00011
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)	rs372971566	0.00005
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser)	rs747231282	0.00002
NM_000093.5(COL5A1):c.4555-6T>G	rs1588592849
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)	rs770238710
NM_000093.5(COL5A1):c.4645-4C>G	rs747264682
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=)	rs1318402758

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