ClinVar Miner

List of variants reported as uncertain significance for Hereditary factor XI deficiency disease by Counsyl

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1084G>A (p.Gly362Arg) rs142096488 0.00028
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His) rs201688862 0.00004
NM_000128.4(F11):c.1135+5G>A rs758515608 0.00003
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000128.3(F11):c.-456G>A rs1004061199 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1627G>A (p.Glu543Lys) rs142952627 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys) rs748139184 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.680G>A (p.Gly227Asp) rs1489595409 0.00001
NM_000128.4(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.4(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.55+6delinsGAG rs1554081299
NM_000128.4(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932

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