ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, vascular type by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (4):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp)	rs1688217809
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His)	rs1408351089
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)	rs755762264

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