ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, vascular type by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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.1618G>A (p.Gly540Arg)	rs587779584
NM_000090.4(COL3A1):c.3417+1G>A	rs587779444
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650

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