ClinVar Miner

List of variants reported as not provided for thrombophilia due to activated protein C resistance by GeneReviews

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000130.5(F5):c.3980A>G (p.His1327Arg)	rs1800595	0.05074
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)	rs118203905	0.00021
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)	rs118203906	0.00007

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