ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
A244V
C178Y
C310F
C61*
D282N
E14K
E25K
E32Q
E7G
F10, G-A, -20
F10, PRO343SER
F10, SER334PRO
F10, THR318MET
F10, VAL298MET
F2, TYR44CYS
F7, -55C-T
F7, -61T-G
F7, -94C-G
F7, 1-BP DEL, 11128C
F7, ARG247HIS
F7, ASN57ASP
F7, GLY354CYS
F7, IVS4DS, G-A, +1
F7, THR359MET
Factor X Ketchikan
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.513del (p.Cys172fs)
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000506.4(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.*97G>A rs1799963
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675
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_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936
NM_019616.4(F7):c.1272G>A (p.Trp424Ter)
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.394G>T (p.Glu132Ter)
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528

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