ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemochromatosis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_003227.4(TFR2):c.1513G>A (p.Val505Met) rs148541221 0.00026
NM_000410.4(HFE):c.496A>G (p.Lys166Glu) rs144170531 0.00023
NM_021175.4(HAMP):c.175C>G (p.Arg59Gly) rs779021719 0.00022
NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) rs573769443 0.00021
NM_003227.4(TFR2):c.1473+19C>T rs373025420 0.00020
NM_000410.4(HFE):c.1015_1016insG (p.Met339fs) rs754949709 0.00015
NM_000410.4(HFE):c.670C>T (p.Arg224Trp) rs144797937 0.00013
NM_000410.4(HFE):c.616+6G>A rs202027115 0.00009
NM_003227.4(TFR2):c.33G>A (p.Ala11=) rs111840506 0.00009
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.458T>C (p.Leu153Pro) rs201540656 0.00007
NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) rs41303480 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.89G>A (p.Arg30Gln) rs750603454 0.00006
NM_003227.4(TFR2):c.2133G>A (p.Met711Ile) rs941111415 0.00005
NM_003227.4(TFR2):c.2246G>A (p.Arg749Gln) rs369355407 0.00005
NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) rs774907552 0.00005
NM_003227.4(TFR2):c.523C>G (p.Leu175Val) rs377287303 0.00005
NM_021175.4(HAMP):c.150+6C>T rs375386964 0.00005
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.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) rs138310236 0.00004
NM_003227.4(TFR2):c.2234T>G (p.Leu745Arg) rs560223878 0.00004
NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) rs372198326 0.00004
NM_003227.4(TFR2):c.829G>T (p.Val277Leu) rs754813237 0.00004
NM_003227.4(TFR2):c.1096C>T (p.Arg366Cys) rs764311239 0.00003
NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu) rs772659158 0.00003
NM_021175.4(HAMP):c.65C>T (p.Thr22Ile) rs770745939 0.00003
NM_000410.4(HFE):c.724G>A (p.Asp242Asn) rs780188535 0.00002
NM_000410.4(HFE):c.727A>G (p.Lys243Glu) rs767897445 0.00002
NM_003227.4(TFR2):c.1767+5G>A rs894600504 0.00002
NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg) rs758539890 0.00002
NM_003227.4(TFR2):c.2219C>T (p.Thr740Met) rs150806077 0.00002
NM_003227.4(TFR2):c.2320C>T (p.Arg774Cys) rs146487447 0.00002
NM_003227.4(TFR2):c.2327T>C (p.Leu776Pro) rs375561858 0.00002
NM_003227.4(TFR2):c.334G>A (p.Gly112Arg) rs759961080 0.00002
NM_000410.4(HFE):c.20C>G (p.Pro7Arg) rs766754409 0.00001
NM_000410.4(HFE):c.23C>T (p.Ala8Val) rs999289975 0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) rs28934596 0.00001
NM_000410.4(HFE):c.389A>G (p.Asn130Ser) rs201885016 0.00001
NM_000410.4(HFE):c.498G>C (p.Lys166Asn) rs753179816 0.00001
NM_000410.4(HFE):c.563C>T (p.Pro188Leu) rs1762709248 0.00001
NM_000410.4(HFE):c.679G>C (p.Ala227Pro) rs1352793260 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_003227.4(TFR2):c.1129C>T (p.Pro377Ser) rs778433259 0.00001
NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) rs143185818 0.00001
NM_003227.4(TFR2):c.1246T>C (p.Cys416Arg) rs1351526519 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1619A>G (p.Asn540Ser) rs770274506 0.00001
NM_003227.4(TFR2):c.1939G>A (p.Gly647Arg) rs759540608 0.00001
NM_003227.4(TFR2):c.2036G>A (p.Gly679Glu) rs1060502724 0.00001
NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr) rs1302587036 0.00001
NM_003227.4(TFR2):c.2054C>T (p.Ala685Val) rs765525964 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.2254C>T (p.Arg752Cys) rs1028494790 0.00001
NM_003227.4(TFR2):c.2318G>A (p.Arg773Gln) rs369462289 0.00001
NM_003227.4(TFR2):c.286+4A>C rs1803687135 0.00001
NM_003227.4(TFR2):c.572T>C (p.Val191Ala) rs776558626 0.00001
NM_003227.4(TFR2):c.966+5G>A rs1319622152 0.00001
NM_003227.4(TFR2):c.99C>A (p.His33Gln) rs765387386 0.00001
NM_021175.4(HAMP):c.155T>C (p.Met52Thr) rs749023682 0.00001
NM_021175.4(HAMP):c.91-1G>A rs761907472 0.00001
NC_000007.13:g.(?_100218474)_(100227001_?)dup
NC_000007.13:g.(?_100226866)_(100227005_?)del
NM_000410.4(HFE):c.1000G>T (p.Gly334Cys)
NM_000410.4(HFE):c.107G>A (p.Gly36Asp) rs1364493082
NM_000410.4(HFE):c.182A>G (p.Tyr61Cys) rs1684658845
NM_000410.4(HFE):c.278G>T (p.Gly93Val) rs757281653
NM_000410.4(HFE):c.295A>G (p.Thr99Ala)
NM_000410.4(HFE):c.313A>G (p.Ile105Val) rs2481603911
NM_000410.4(HFE):c.314T>G (p.Ile105Ser) rs28934596
NM_000410.4(HFE):c.341-12G>A rs1407042975
NM_000410.4(HFE):c.541G>A (p.Ala181Thr)
NM_000410.4(HFE):c.622C>A (p.Pro208Thr) rs866376221
NM_000410.4(HFE):c.742G>A (p.Ala248Thr) rs2481620436
NM_000410.4(HFE):c.965T>C (p.Ile322Thr) rs150716212
NM_000410.4(HFE):c.968del (p.Gly323fs) rs766108842
NM_003227.4(TFR2):c.1106+7G>T rs1207873255
NM_003227.4(TFR2):c.1107-3C>T rs1421153041
NM_003227.4(TFR2):c.1117G>C (p.Gly373Arg) rs1803418029
NM_003227.4(TFR2):c.1192C>G (p.Arg398Gly) rs138189378
NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) rs144917130
NM_003227.4(TFR2):c.1300G>A (p.Asp434Asn) rs887907860
NM_003227.4(TFR2):c.1486G>A (p.Val496Met) rs777532178
NM_003227.4(TFR2):c.1766A>T (p.Glu589Val)
NM_003227.4(TFR2):c.1767+6A>T rs750051302
NM_003227.4(TFR2):c.1771G>C (p.Asp591His) rs1060502723
NM_003227.4(TFR2):c.1861G>C (p.Ala621Pro) rs1425852957
NM_003227.4(TFR2):c.1862C>A (p.Ala621Asp) rs1056668646
NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) rs1246737417
NM_003227.4(TFR2):c.188_189delinsTT (p.Gly63Val)
NM_003227.4(TFR2):c.1894C>T (p.Arg632Trp) rs755561602
NM_003227.4(TFR2):c.1945GTC[1] (p.Val650del)
NM_003227.4(TFR2):c.1990C>T (p.Leu664Phe) rs1803288651
NM_003227.4(TFR2):c.2008A>C (p.Thr670Pro) rs2486115324
NM_003227.4(TFR2):c.2071_2073del (p.Glu691del) rs1803269290
NM_003227.4(TFR2):c.2105T>C (p.Leu702Pro) rs1803265980
NM_003227.4(TFR2):c.2111G>A (p.Arg704His) rs1562837528
NM_003227.4(TFR2):c.2111G>T (p.Arg704Leu) rs1562837528
NM_003227.4(TFR2):c.2221C>G (p.Leu741Val)
NM_003227.4(TFR2):c.2321_2323del (p.Arg774del)
NM_003227.4(TFR2):c.283G>A (p.Gly95Arg)
NM_003227.4(TFR2):c.2T>G (p.Met1Arg) rs2131328398
NM_003227.4(TFR2):c.407A>C (p.Tyr136Ser) rs1391879497
NM_003227.4(TFR2):c.49A>G (p.Arg17Gly)
NM_003227.4(TFR2):c.570C>A (p.His190Gln) rs1178849216
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.887T>C (p.Leu296Pro)
NM_021175.4(HAMP):c.175C>T (p.Arg59Ter) rs779021719
NM_021175.4(HAMP):c.208T>C (p.Cys70Arg) rs1374259518
NM_021175.4(HAMP):c.216C>A (p.Cys72Ter) rs763369315
NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr) rs863224779
NM_021175.4(HAMP):c.248A>G (p.Lys83Arg)
NM_021175.4(HAMP):c.40CTC[3] (p.Leu17_Leu18del) rs760383487
NM_021175.4(HAMP):c.97C>A (p.Gln33Lys) rs2066318628

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.