ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, vascular type by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	rs111840783	0.00083
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)	rs756680770	0.00004

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