ClinVar Miner

List of variants reported as pathogenic for coagulation protein disease by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.3(F9):c.253-1G>C rs1434866164
NM_000133.3(F9):c.316G>A (p.Gly106Ser) rs137852233
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>A (p.Val30Ile)
NM_000506.4(F2):c.*97G>A rs1799963

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