ClinVar Miner

List of variants in gene HFE studied for Hereditary hemochromatosis

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Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.1007-47G>A rs1572982 0.52187
NR_144383.1(HFE-AS1):n.1501C>G rs2794720 0.36679
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000410.4(HFE):c.892+16G>C rs145172249 0.00734
NM_000410.4(HFE):c.1026C>T (p.Tyr342=) rs35201683 0.00515
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.1006+14A>G rs201262562 0.00068
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_000410.4(HFE):c.21G>A (p.Pro7=) rs114758821 0.00039
NM_000410.4(HFE):c.68G>A (p.Arg23His) rs148161858 0.00032
NM_000410.4(HFE):c.496A>G (p.Lys166Glu) rs144170531 0.00026
NM_000410.4(HFE):c.174C>T (p.Phe58=) rs147297176 0.00019
NM_000410.4(HFE):c.670C>T (p.Arg224Trp) rs144797937 0.00013
NM_000410.4(HFE):c.616+6G>A rs202027115 0.00009
NM_000410.4(HFE):c.76+11G>A rs201666949 0.00005
NM_000410.4(HFE):c.843G>A (p.Thr281=) rs369354634 0.00005
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.1010G>T (p.Gly337Val) rs751707198 0.00004
NM_000410.4(HFE):c.40C>G (p.Leu14Val) rs201657128 0.00004
NM_000410.4(HFE):c.696C>T (p.Pro232=) rs775728624 0.00004
NM_000410.4(HFE):c.-7T>C rs369807746 0.00003
NM_000410.4(HFE):c.414C>T (p.Tyr138=) rs780563614 0.00003
NM_000410.4(HFE):c.51C>T (p.Thr17=) rs953205703 0.00003
NM_000410.4(HFE):c.528C>G (p.Ala176=) rs779438836 0.00003
NM_000410.4(HFE):c.88C>T (p.Leu30=) rs760685317 0.00003
NM_000410.4(HFE):c.156C>T (p.Tyr52=) rs756070473 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000410.4(HFE):c.6C>T (p.Gly2=) rs558658016 0.00002
NM_000410.4(HFE):c.724G>A (p.Asp242Asn) rs780188535 0.00002
NM_000410.4(HFE):c.867G>C (p.Leu289=) rs757276126 0.00002
NM_000410.4(HFE):c.892G>T (p.Glu298Ter) rs749553271 0.00002
NM_000410.4(HFE):c.903G>A (p.Pro301=) rs372856303 0.00002
NM_000410.4(HFE):c.211C>T (p.Arg71Ter) rs759524388 0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) rs28934596 0.00001
NM_000410.4(HFE):c.352C>T (p.Leu118=) rs1368079234 0.00001
NM_000410.4(HFE):c.363C>T (p.Ile121=) rs754323879 0.00001
NM_000410.4(HFE):c.389A>G (p.Asn130Ser) rs201885016 0.00001
NM_000410.4(HFE):c.396C>T (p.Thr132=) rs369790080 0.00001
NM_000410.4(HFE):c.498G>C (p.Lys166Asn) rs753179816 0.00001
NM_000410.4(HFE):c.537C>T (p.Asn179=) rs1284999612 0.00001
NM_000410.4(HFE):c.563C>T (p.Pro188Leu) rs1762709248 0.00001
NM_000410.4(HFE):c.57C>T (p.Val19=) rs749460044 0.00001
NM_000410.4(HFE):c.636G>C (p.Val212=) rs1581671232 0.00001
NM_000410.4(HFE):c.660G>A (p.Val220=) rs1293837185 0.00001
NM_000410.4(HFE):c.699G>A (p.Gln233=) rs769080664 0.00001
NM_000410.4(HFE):c.747G>A (p.Lys249=) rs747277009 0.00001
NM_000410.4(HFE):c.753C>T (p.Phe251=) rs150402693 0.00001
NM_000410.4(HFE):c.76+2T>C rs776994377 0.00001
NM_000410.4(HFE):c.76+8C>T rs1354115687 0.00001
NM_000410.4(HFE):c.765C>T (p.Asp255=) rs777622145 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000410.4(HFE):c.842C>T (p.Thr281Met) rs915273578 0.00001
NM_000410.4(HFE):c.84C>T (p.His28=) rs766876606 0.00001
NM_000410.4(HFE):c.87T>C (p.Ser29=) rs772911078 0.00001
NM_000410.4(HFE):c.913C>T (p.Leu305=) rs571150642 0.00001
NC_000006.11:g.(?_26087669)_(26091837_?)del
NC_000006.11:g.(?_26087669)_(26094454_?)del
NM_000410.4(HFE):c.1002T>C (p.Gly334=)
NM_000410.4(HFE):c.1006+17G>A
NM_000410.4(HFE):c.1006+19del
NM_000410.4(HFE):c.1006+9G>A rs2113764431
NM_000410.4(HFE):c.1006+9del
NM_000410.4(HFE):c.1007-5C>T rs1158567861
NM_000410.4(HFE):c.1007-8C>T
NM_000410.4(HFE):c.1015_1016insG (p.Met339fs)
NM_000410.4(HFE):c.1022_1034del (p.His341fs) rs1199530060
NM_000410.4(HFE):c.1035T>A (p.Ala345=)
NM_000410.4(HFE):c.107G>A (p.Gly36Asp) rs1364493082
NM_000410.4(HFE):c.123C>T (p.Asp41=)
NM_000410.4(HFE):c.129T>G (p.Gly43=)
NM_000410.4(HFE):c.136T>C (p.Leu46=) rs1205608152
NM_000410.4(HFE):c.141T>C (p.Phe47=) rs2113749662
NM_000410.4(HFE):c.165C>T (p.Asp55=) rs2113749837
NM_000410.4(HFE):c.171G>C (p.Leu57=) rs1398948148
NM_000410.4(HFE):c.182A>G (p.Tyr61Cys) rs1684658845
NM_000410.4(HFE):c.192G>A (p.Glu64=) rs556335391
NM_000410.4(HFE):c.199C>T (p.Arg67Cys)
NM_000410.4(HFE):c.201T>C (p.Arg67=)
NM_000410.4(HFE):c.228C>T (p.Ser76=) rs62625342
NM_000410.4(HFE):c.23C>T (p.Ala8Val)
NM_000410.4(HFE):c.24G>C (p.Ala8=)
NM_000410.4(HFE):c.278G>T (p.Gly93Val)
NM_000410.4(HFE):c.279G>C (p.Gly93=)
NM_000410.4(HFE):c.279del (p.Trp94fs) rs773296212
NM_000410.4(HFE):c.313A>G (p.Ile105Val)
NM_000410.4(HFE):c.314T>G (p.Ile105Ser)
NM_000410.4(HFE):c.340+12G>A
NM_000410.4(HFE):c.340+19T>C
NM_000410.4(HFE):c.341-11G>A
NM_000410.4(HFE):c.341-12G>A
NM_000410.4(HFE):c.341-17G>C
NM_000410.4(HFE):c.341-1G>A rs1762684254
NM_000410.4(HFE):c.341-4C>G
NM_000410.4(HFE):c.345C>A (p.Ser115=) rs1581667723
NM_000410.4(HFE):c.36G>C (p.Leu12=)
NM_000410.4(HFE):c.396C>G (p.Thr132=)
NM_000410.4(HFE):c.407G>A (p.Trp136Ter)
NM_000410.4(HFE):c.414C>G (p.Tyr138Ter) rs780563614
NM_000410.4(HFE):c.417G>C (p.Gly139=)
NM_000410.4(HFE):c.432C>T (p.Asp144=)
NM_000410.4(HFE):c.43T>C (p.Leu15=)
NM_000410.4(HFE):c.457C>T (p.Leu153=) rs2113753137
NM_000410.4(HFE):c.474A>G (p.Ala158=) rs1581668131
NM_000410.4(HFE):c.480del (p.Arg161fs) rs777018511
NM_000410.4(HFE):c.486C>G (p.Ala162=)
NM_000410.4(HFE):c.492C>T (p.Pro164=)
NM_000410.4(HFE):c.502G>T (p.Glu168Ter) rs146519482
NM_000410.4(HFE):c.504G>A (p.Glu168=) rs1447606213
NM_000410.4(HFE):c.513G>A (p.Arg171=) rs2113753629
NM_000410.4(HFE):c.525G>A (p.Arg175=)
NM_000410.4(HFE):c.525G>C (p.Arg175=)
NM_000410.4(HFE):c.546C>A (p.Tyr182Ter)
NM_000410.4(HFE):c.548T>C (p.Leu183Pro)
NM_000410.4(HFE):c.54G>A (p.Ala18=)
NM_000410.4(HFE):c.54G>C (p.Ala18=)
NM_000410.4(HFE):c.568C>T (p.Gln190Ter)
NM_000410.4(HFE):c.582G>A (p.Leu194=)
NM_000410.4(HFE):c.585G>A (p.Leu195=)
NM_000410.4(HFE):c.588G>A (p.Glu196=) rs2113754094
NM_000410.4(HFE):c.604T>C (p.Leu202=)
NM_000410.4(HFE):c.610C>T (p.Gln204Ter)
NM_000410.4(HFE):c.616+13C>T
NM_000410.4(HFE):c.616+15C>T
NM_000410.4(HFE):c.616+18T>G
NM_000410.4(HFE):c.616+1G>T
NM_000410.4(HFE):c.616+9G>T
NM_000410.4(HFE):c.617-11T>C
NM_000410.4(HFE):c.622C>A (p.Pro208Thr) rs866376221
NM_000410.4(HFE):c.626del (p.Leu209fs) rs1762806344
NM_000410.4(HFE):c.663C>A (p.Thr221=)
NM_000410.4(HFE):c.663del (p.Thr222fs)
NM_000410.4(HFE):c.667C>T (p.Leu223=)
NM_000410.4(HFE):c.669A>G (p.Leu223=)
NM_000410.4(HFE):c.675T>C (p.Cys225=)
NM_000410.4(HFE):c.679G>C (p.Ala227Pro)
NM_000410.4(HFE):c.693C>T (p.Tyr231=)
NM_000410.4(HFE):c.708C>T (p.Thr236=) rs2113761105
NM_000410.4(HFE):c.712A>T (p.Lys238Ter)
NM_000410.4(HFE):c.714G>A (p.Lys238=) rs2113761169
NM_000410.4(HFE):c.720G>A (p.Leu240=)
NM_000410.4(HFE):c.720G>C (p.Leu240=) rs1309004246
NM_000410.4(HFE):c.720_726dup (p.Lys243delinsGluGlyTer)
NM_000410.4(HFE):c.726T>C (p.Asp242=)
NM_000410.4(HFE):c.727A>G (p.Lys243Glu)
NM_000410.4(HFE):c.742G>A (p.Ala248Thr)
NM_000410.4(HFE):c.744C>A (p.Ala248=)
NM_000410.4(HFE):c.759T>A (p.Pro253=)
NM_000410.4(HFE):c.76+12G>A
NM_000410.4(HFE):c.76+13G>A
NM_000410.4(HFE):c.76+15T>G
NM_000410.4(HFE):c.76+17C>T
NM_000410.4(HFE):c.76+20G>A
NM_000410.4(HFE):c.76+20G>C
NM_000410.4(HFE):c.76+8C>A
NM_000410.4(HFE):c.76+9G>T rs2113726940
NM_000410.4(HFE):c.760A>T (p.Lys254Ter)
NM_000410.4(HFE):c.762del (p.Asp255fs) rs1554154042
NM_000410.4(HFE):c.769T>C (p.Leu257=) rs2113761641
NM_000410.4(HFE):c.77-5T>C
NM_000410.4(HFE):c.780G>A (p.Gly260=)
NM_000410.4(HFE):c.792C>T (p.Tyr264=) rs780246573
NM_000410.4(HFE):c.798C>A (p.Gly266=) rs768801919
NM_000410.4(HFE):c.819C>T (p.Pro273=)
NM_000410.4(HFE):c.832C>T (p.Gln278Ter)
NM_000410.4(HFE):c.840T>A (p.Tyr280Ter)
NM_000410.4(HFE):c.840T>C (p.Tyr280=) rs1190990892
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) rs111033563
NM_000410.4(HFE):c.849G>A (p.Gln283=) rs763692495
NM_000410.4(HFE):c.861A>G (p.Pro287=)
NM_000410.4(HFE):c.876C>T (p.Pro292=)
NM_000410.4(HFE):c.892+1G>T rs1762833218
NM_000410.4(HFE):c.892+7G>A rs2113762728
NM_000410.4(HFE):c.893-1G>C
NM_000410.4(HFE):c.893-8T>C
NM_000410.4(HFE):c.894G>A (p.Glu298=) rs114038675
NM_000410.4(HFE):c.903G>C (p.Pro301=) rs372856303
NM_000410.4(HFE):c.903G>T (p.Pro301=) rs372856303
NM_000410.4(HFE):c.912C>G (p.Thr304=)
NM_000410.4(HFE):c.951C>T (p.Val317=)
NM_000410.4(HFE):c.957C>T (p.Ile319=)
NM_000410.4(HFE):c.965T>C (p.Ile322Thr)
NM_000410.4(HFE):c.968del (p.Gly323fs) rs766108842
NM_000410.4(HFE):c.978C>T (p.Phe326=) rs1581673132
NM_000410.4(HFE):c.99C>T (p.Leu33=)

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