ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, vascular type by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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.505C>T (p.Leu169Phe)	rs111391222	0.00061
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val)	rs1057519250

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