List of variants reported as pathogenic for High molecular weight kininogen deficiency by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001102416.3(KNG1):c.1038+1G>A	rs377594184	0.00005
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter)	rs752411996	0.00001
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter)	rs121918131	0.00001
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter)	rs761496908	0.00001
NM_001102416.3(KNG1):c.306+2T>A	rs2473875619

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