ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, vascular type by Fulgent Genetics, Fulgent Genetics

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.1996G>A (p.Gly666Ser)	rs755528878	0.00002
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)	rs587779696
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)	rs587779620

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