ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by deCODE genetics, Amgen

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter)	rs1688231158
NM_000090.4(COL3A1):c.1663-1G>T	rs749145939
NM_000090.4(COL3A1):c.1762-1G>T	rs2469137619
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter)	rs1688532582
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	rs112371422

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