ClinVar Miner

List of variants in gene F7 reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
F7, -55C-T
F7, -61T-G
F7, -94C-G
F7, 1-BP DEL, 11128C
F7, ALA244VAL
F7, ARG247HIS
F7, ASN57ASP
F7, CYS178TYR
F7, CYS310PHE
F7, CYS61TER
F7, GLU25LYS
F7, GLY354CYS
F7, IVS4DS, G-A, +1
F7, THR359MET
NM_000131.4(F7):c.1061C>T (p.Ala354Val) rs36209567
NM_000131.4(F7):c.1091G>A (p.Arg364Gln) rs121964926
NM_000131.4(F7):c.1165T>G (p.Cys389Gly) rs121964934
NM_000131.4(F7):c.1224T>G (p.His408Gln) rs121964936
NM_000131.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_000131.4(F7):c.479A>G (p.Gln160Arg) rs200016360
NM_000131.4(F7):c.628C>T (p.Gln210Ter) rs267606790
NM_000131.4(F7):c.849_865del (p.Arg284fs) rs786205091
NM_000131.4(F7):c.983T>C (p.Phe328Ser) rs387906508

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