ClinVar Miner

List of variants studied for congenital vitamin K-dependent coagulation factors deficiency by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000131.4(F7):c.-61T>G rs1367115848
NM_000131.4(F7):c.430+1G>A rs1056071555
NM_000131.4(F7):c.681+1G>T rs769452933
NM_000131.4(F7):c.805+5G>A rs746625213
NM_000131.4(F7):c.805+7_805+43del rs1309684522
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
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.161A>G (p.Glu54Gly) rs121964944
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
NM_019616.4(F7):c.-30A>C rs539578931
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567
Single allele

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