ClinVar Miner

List of variants studied for thrombophilia due to activated protein C resistance by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1
Factor V deficiency; Thrombophilia due to activated protein C resistance
Thrombophilia due to activated protein C resistance

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)

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