List of variants reported as likely pathogenic for Hereditary factor XI deficiency disease by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000128.4(F11):c.400C>T (p.Gln134Ter)	rs756908183	0.00004
NM_000128.4(F11):c.1327C>T (p.Arg443Cys)	rs369435407	0.00003
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	rs779802284	0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val)	rs121965071	0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter)	rs768409400	0.00001
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)	rs538083600
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
NM_000128.4(F11):c.738del (p.Trp246fs)

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