ClinVar Miner

List of variants studied for coagulation protein disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)
NM_000132.3(F8):c.984T>G (p.Phe328Leu)
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519

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