ClinVar Miner

List of variants reported as likely pathogenic for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) rs369872236 0.00011
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_000504.4(F10):c.1097G>A (p.Arg366His) rs143715673 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1252G>C (p.Asp418His) rs2138557799
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) rs1595099844
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.167A>G (p.Glu56Gly)
NM_000504.4(F10):c.205G>A (p.Glu69Lys) rs1325135019
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
NM_000504.4(F10):c.232-2563_503-451del
NM_000504.4(F10):c.248_251del (p.Lys83fs)
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
NM_000504.4(F10):c.299_300del (p.Lys100fs)
NM_000504.4(F10):c.305_306del (p.Lys102fs)
NM_000506.5(F2):c.1070A>G (p.Glu357Gly) rs2134533215
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
NM_000506.5(F2):c.1270G>A (p.Val424Met) rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu) rs2134537035
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.995G>C (p.Gly332Ala) rs2134532862
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) rs1691898752
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) rs1692107154
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs) rs2142232898
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
Single allele

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