ClinVar Miner

List of variants studied for blood coagulation disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780

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