ClinVar Miner

List of variants reported as uncertain significance 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: 9
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HGVS dbSNP
NM_000131.4(F7):c.805+7_805+43del rs1309684522
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.241T>G (p.Trp81Gly) rs1595092916
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.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328

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