ClinVar Miner

List of variants reported as benign for Factor 5 and Factor VIII, combined deficiency of, 2 by Illumina Laboratory Services, Illumina

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_139279.6(MCFD2):c.*1267G>T rs7596245 0.76204
NM_139279.6(MCFD2):c.*1752T>C rs6544935 0.73719
NM_139279.6(MCFD2):c.*2454C>A rs1051317 0.20979
NM_139279.6(MCFD2):c.*693G>C rs28516550 0.11926
NM_139279.6(MCFD2):c.*2075C>T rs6743966 0.11844
NM_139279.6(MCFD2):c.*2658C>T rs17035887 0.11807
NM_139279.6(MCFD2):c.*498A>G rs144674773 0.06645
NM_139279.6(MCFD2):c.*1908G>C rs6743994 0.06473
NM_139279.6(MCFD2):c.*1924T>C rs6715391 0.06423
NM_139279.6(MCFD2):c.*1525C>G rs7596198 0.06380
NM_139279.6(MCFD2):c.*2675C>G rs17035884 0.06201
NM_139279.6(MCFD2):c.*3318T>C rs8861 0.05885
NM_139279.6(MCFD2):c.*133A>T rs75416242 0.05300
NM_139279.6(MCFD2):c.*73A>G rs71423925 0.04579
NM_139279.6(MCFD2):c.*3100C>G rs13424086 0.03363
NM_139279.6(MCFD2):c.*1788C>T rs115043642 0.03146
NM_139279.6(MCFD2):c.*1042C>T rs111603188 0.02828
NM_139279.6(MCFD2):c.*1346G>T rs111535939 0.02827
NM_139279.6(MCFD2):c.*2163A>G rs140937815 0.02097
NM_139279.6(MCFD2):c.*1010G>T rs138758588 0.01819
NM_139279.6(MCFD2):c.*1724C>T rs115137793 0.01078
NM_139279.6(MCFD2):c.*1043G>A rs114662283 0.01064
NM_139279.6(MCFD2):c.*2336A>C rs144118640 0.01059
NM_139279.6(MCFD2):c.*1124G>A rs190398265 0.01009
NM_139279.6(MCFD2):c.*1677T>G rs28770495

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