ClinVar Miner

List of variants studied for coagulation protein disease by GeneReviews

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000133.3(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000602.4(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000602.4(SERPINE1):c.697_698TA[3] (p.Thr234fs) rs1194865614

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