ClinVar Miner

List of variants studied for Hereditary factor XI deficiency disease by OMIM

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Total variants: 16
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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.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1378T>G (p.Phe460Val) rs121965065 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.4(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.485+5G>C rs1173748968

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