List of variants in gene F8 reported as likely benign for Hereditary factor VIII deficiency disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000132.4(F8):c.1508G>A (p.Arg503His)	rs35383156	0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln)	rs149853218	0.00419
NM_000132.4(F8):c.389-9C>T	rs35621875	0.00356
NM_000132.4(F8):c.2947G>A (p.Val983Ile)	rs35295375	0.00205
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro)	rs146153504	0.00129
NM_000132.4(F8):c.*1379A>G	rs36101366	0.00127
NM_000132.4(F8):c.102C>T (p.Asp34=)	rs1800283	0.00070
NM_000132.4(F8):c.5430T>G (p.Ser1810=)	rs142177821	0.00050
NM_000132.4(F8):c.6115+27C>T	rs375609267	0.00039
NM_000132.4(F8):c.*30G>A	rs376482768	0.00020
NM_000132.4(F8):c.1064G>A (p.Arg355Gln)	rs146581224	0.00019
NM_000132.4(F8):c.6276G>A (p.Val2092=)	rs199522131	0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	rs137852388	0.00018
NM_000132.4(F8):c.2383A>G (p.Arg795Gly)	rs2228152	0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)	rs201721215	0.00015
NM_000132.4(F8):c.3399A>G (p.Gly1133=)	rs200042130	0.00015
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys)	rs201393905	0.00011
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	rs375241473	0.00007
NM_000132.4(F8):c.5604A>T (p.Ser1868=)	rs782028903	0.00006
NM_000132.4(F8):c.2217G>A (p.Glu739=)	rs781850654	0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val)	rs781943293	0.00005
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp)	rs199630813	0.00004
NM_000132.4(F8):c.2535C>A (p.Asp845Glu)	rs200316756	0.00003
NM_000132.4(F8):c.3981G>A (p.Thr1327=)	rs374245599	0.00002
NM_000132.4(F8):c.144-13T>G	rs782248521	0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=)	rs200902529	0.00001
NM_000132.4(F8):c.*992A>G	rs782499043
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg)	rs782791962
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe)	rs2073022685

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.