ClinVar Miner

List of variants in gene F5 reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
F5, 1-BP DEL, 2952T
F5, 1-BP INS, 5493G
F5, 4-BP DEL, EX13
F5, 4-BP INS, 2805ATTG
F5, 8-BP DEL, NT1131
NM_000130.4(F5):c.1001G>C (p.Arg334Thr) rs118203906
NM_000130.4(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) rs118203909
NM_000130.4(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) rs118203907
NM_000130.4(F5):c.5365C>T (p.Arg1789Ter)
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910

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