List of variants reported as likely benign for Factor XII deficiency disease by Illumina Laboratory Services, Illumina

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	rs34225933	0.02221
NM_000505.4(F12):c.1342C>T (p.Arg448Cys)	rs115119084	0.00679
NM_003052.5(SLC34A1):c.*485G>A	rs143160780	0.00504
NM_000505.4(F12):c.398-12C>T	rs56285942	0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=)	rs61737766	0.00486
NC_000005.10:g.177409584C>G	rs41309132	0.00297
NM_000505.4(F12):c.418C>G (p.Leu140Val)	rs35515200	0.00247
NM_003052.5(SLC34A1):c.*179G>A	rs141664220	0.00237
NM_000505.4(F12):c.-62C>T	rs187018744	0.00223
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)	rs183643295	0.00115
NM_003052.5(SLC34A1):c.*361T>C	rs539754545	0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=)	rs17876033	0.00093
NM_000505.4(F12):c.-8C>T	rs369991760	0.00032
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	rs148575220	0.00012
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	rs199565633	0.00010
NM_000505.4(F12):c.1251-7C>T	rs375340260

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.