ClinVar Miner

List of variants reported as benign for Factor V deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5419+12A>G rs6009 0.92617
NM_000130.5(F5):c.*1115C>T rs2040444 0.48430
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30567
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.28700
NM_000130.5(F5):c.*1601C>T rs2187952 0.25664
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24548
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24547
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24537
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16200
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.*1820A>C rs72708013 0.05560
NM_000130.5(F5):c.*873C>T rs9332673 0.05551
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05508
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.04678
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02292
NM_000130.5(F5):c.*1118G>A rs9332675 0.01943
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01740
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01251
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01106
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000130.5(F5):c.*376A>T rs76510731 0.00677
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00166
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00111
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00054
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573

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.