ClinVar Miner

List of variants studied for Hereditary factor XI deficiency disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778

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