ClinVar Miner

List of variants reported as benign for congenital factor V deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000130.5(F5):c.6193+831G>A rs3766103 0.49544
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
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 0.30714
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
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 0.16155
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
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.1238T>C (p.Met413Thr) rs6033 0.06350
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 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000130.5(F5):c.2105C>T (p.Thr702Ile) rs78958618 0.01131
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000130.5(F5):c.4563T>C (p.Asp1521=) rs113997556 0.00257
NM_000130.5(F5):c.1612-9G>T rs6038 0.00182
NM_000130.5(F5):c.2142A>G (p.Glu714=) rs59779968 0.00164
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000130.5(F5):c.1539A>G (p.Arg513=) rs140627208 0.00148
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00066
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000130.5(F5):c.5723G>A (p.Arg1908Lys) rs191148130 0.00015
NM_000130.5(F5):c.2032A>G (p.Lys678Glu) rs201292247 0.00004
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.1118+14del
NM_000130.5(F5):c.1119-14del
NM_000130.5(F5):c.1119-14dup
NM_000130.5(F5):c.1297-15G>A
NM_000130.5(F5):c.1612-10dup
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.251-6del
NM_000130.5(F5):c.4971+11del
NM_000130.5(F5):c.5383A>C (p.Thr1795Pro)
NM_000130.5(F5):c.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.5419+11_5419+12inv
NM_000130.5(F5):c.5600-8del
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5694G>A (p.Thr1898=)
NM_000130.5(F5):c.5717-14del
NM_000130.5(F5):c.5717-14dup
NM_000130.5(F5):c.5717-4A>G
NM_000130.5(F5):c.5717-6dup
NM_000130.5(F5):c.586+14dup
NM_000130.5(F5):c.5949C>T (p.His1983=)
NM_000130.5(F5):c.6193+16G>A
NM_000130.5(F5):c.6194-20C>A rs6013
NM_000130.5(F5):c.6651A>G (p.Glu2217=)

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