ClinVar Miner

List of variants studied for hemophilia A by Versiti Diagnostic Laboratories, Versiti, Inc

Included ClinVar conditions (4):

Factor V deficiency; Hereditary factor VIII deficiency disease; Factor V and factor VIII, combined deficiency of, type 1
Hereditary factor VIII deficiency disease
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect
Mild hemophilia A

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_000132.4(F8):c.1094A>G (p.Tyr365Cys)	rs375241473	0.00007
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)	rs137852417	0.00001

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