ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, vascular type by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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.1804C>A (p.Pro602Thr)	rs35795890	0.00513
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)	rs112185887	0.00176

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