ClinVar Miner

List of variants reported as likely pathogenic 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.1694_1697del (p.Pro565fs)
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys)	rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	rs794728060

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