ClinVar Miner

List of variants studied for congenital vitamin K-dependent coagulation factors deficiency by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NC_000013.11:g.113105748C>G rs1263426144 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000504.4(F10):c.1012G>A (p.Val338Met) rs121964947 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.140A>G (p.Glu47Gly) rs121964943 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1120T>C (p.Ser374Pro) rs121964941
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.214G>C (p.Glu72Gln) rs121964945
NM_000504.4(F10):c.61G>A (p.Gly21Arg) rs753790195
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.964G>A (p.Asp322Asn) rs121964942
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) rs121909676
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) rs28928872
NM_000821.7(GGCX):c.215-1G>T rs786205096
NM_001312675.2(F10):c.*138C>T rs121964940
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1174G>T (p.Gly392Cys)
NM_019616.4(F7):c.1190C>T (p.Thr397Met)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.187G>A (p.Glu63Lys)
NM_019616.4(F7):c.283A>G (p.Asn95Asp) rs121964932
NM_019616.4(F7):c.297C>A (p.Cys99Ter)
NM_019616.4(F7):c.364+1G>C rs1056071555
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) rs121964928
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508

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