ClinVar Miner

List of variants studied for coagulation protein disease by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000023.10:g.(?_138612860)_(138645598_?)del
NC_000023.10:g.(?_138612860)_(139587225_?)del
NC_000023.10:g.(?_138612918)_(138644235_?)del
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) rs149048805
NM_000130.4(F5):c.4633C>A (p.Pro1545Thr)
NM_000130.4(F5):c.5265A>G (p.Ile1755Met)
NM_000130.4(F5):c.996A>C (p.Lys332Asn)
NM_000133.3(F9):c.-35G>A
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1095A>G (p.Ser365=) rs112057482
NM_000133.3(F9):c.1148T>C (p.Leu383Pro) rs1387119011
NM_000133.3(F9):c.1381A>C (p.Thr461Pro) rs4149751
NM_000133.3(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.3(F9):c.19A>T (p.Ile7Phe) rs150190385
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.3(F9):c.253-1G>C rs1434866164
NM_000133.3(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.3(F9):c.316G>A (p.Gly106Ser) rs137852233
NM_000133.3(F9):c.391+10T>G rs375734226
NM_000133.3(F9):c.391+7A>G rs6049
NM_000133.3(F9):c.819T>C (p.Val273=) rs1800455
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>A (p.Val30Ile)
NM_000133.3(F9):c.960A>C (p.Glu320Asp)
NM_000506.4(F2):c.*97G>A rs1799963

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