ClinVar Miner

List of variants studied for Hereditary factor XI deficiency disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1026G>T (p.Gly342=) rs768894507 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1831G>A (p.Val611Met)
NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.752_755+25delinsT
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932

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