ClinVar Miner

List of variants in gene F7 reported as pathogenic for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
A244V
C178Y
C310F
C61*
E25K
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
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

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