ClinVar Miner

List of variants studied for blood coagulation disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (155):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000133.4(F9):c.855G>C (p.Glu285Asp) rs1603267310
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657

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