ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, vascular type by Juno Genomics, Hangzhou Juno Genomics, Inc

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val)	rs587779542
NM_000090.4(COL3A1):c.3320G>C (p.Gly1107Ala)
NM_000090.4(COL3A1):c.609del (p.Gly204fs)
NM_000090.4(COL3A1):c.80-2A>T	rs2153501340

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