ClinVar Miner

List of variants studied for blood coagulation disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) rs1739770567

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