ClinVar Miner

List of variants in gene TFR2 reported as pathogenic for Hereditary hemochromatosis

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00004
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile) rs772104483 0.00001
NM_003227.4(TFR2):c.1606-2A>G rs750609759 0.00001
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) rs1220336558 0.00001
NC_000007.14:g.(?_100640676)_(100641519_?)del
NC_000007.14:g.(?_100640680)_(100641515_?)del
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs)
NM_003227.4(TFR2):c.1115_1116del (p.Lys372fs) rs1803418157
NM_003227.4(TFR2):c.1132dup (p.Gln378fs)
NM_003227.4(TFR2):c.1163del (p.Pro388fs) rs1422733588
NM_003227.4(TFR2):c.1179del (p.Pro395fs)
NM_003227.4(TFR2):c.124del (p.Glu42fs)
NM_003227.4(TFR2):c.1286dup (p.Gly430fs)
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg) rs780902940
NM_003227.4(TFR2):c.1288G>C (p.Gly430Arg)
NM_003227.4(TFR2):c.1362_1363insT (p.Arg455fs)
NM_003227.4(TFR2):c.1398del (p.Arg468fs) rs773050231
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)
NM_003227.4(TFR2):c.1467_1468delinsAT (p.Trp489_Leu490delinsTer)
NM_003227.4(TFR2):c.1470del (p.Glu491fs)
NM_003227.4(TFR2):c.1629del (p.Gln544fs) rs749211542
NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer) rs1803309728
NM_003227.4(TFR2):c.1746del (p.Val583fs) rs1562838535
NM_003227.4(TFR2):c.17del (p.Gly6fs)
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) rs1803297757
NM_003227.4(TFR2):c.1812T>G (p.Tyr604Ter)
NM_003227.4(TFR2):c.183_211del (p.Leu62fs)
NM_003227.4(TFR2):c.1841dup (p.Leu615fs)
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.18dup (p.Leu7fs)
NM_003227.4(TFR2):c.192del (p.Arg65fs)
NM_003227.4(TFR2):c.1938C>A (p.Tyr646Ter) rs1324815806
NM_003227.4(TFR2):c.1938C>G (p.Tyr646Ter)
NM_003227.4(TFR2):c.1942del (p.Asp648fs)
NM_003227.4(TFR2):c.2183dup (p.Phe729fs) rs1803096138
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) rs1463281712
NM_003227.4(TFR2):c.2236dup (p.Asp746fs) rs777027788
NM_003227.4(TFR2):c.2281dup (p.Ala761fs)
NM_003227.4(TFR2):c.252C>A (p.Tyr84Ter)
NM_003227.4(TFR2):c.253del (p.Leu85fs) rs1426704853
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.318del (p.Ser107fs) rs2131327564
NM_003227.4(TFR2):c.33+1del rs1803699632
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) rs2131328001
NM_003227.4(TFR2):c.401_402dup (p.Leu135fs) rs1388444100
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) rs868823304
NM_003227.4(TFR2):c.484del (p.Leu162fs) rs2131320933
NM_003227.4(TFR2):c.523_524del (p.Leu175fs)
NM_003227.4(TFR2):c.529C>T (p.Gln177Ter)
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter)
NM_003227.4(TFR2):c.63_66del (p.Val22fs)
NM_003227.4(TFR2):c.63del (p.Val22fs) rs2131327975
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) rs763292953
NM_003227.4(TFR2):c.689_690del (p.Asp230fs)
NM_003227.4(TFR2):c.73del (p.Arg25fs)
NM_003227.4(TFR2):c.745del (p.His249fs) rs2131320223
NM_003227.4(TFR2):c.750del (p.His249_Tyr250insTer)
NM_003227.4(TFR2):c.753_756del (p.Arg252fs)
NM_003227.4(TFR2):c.829dup (p.Val277fs)
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) rs1398396879
NM_003227.4(TFR2):c.867del (p.Phe290fs)
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.960T>G (p.Tyr320Ter) rs1584459683
NM_003227.4(TFR2):c.990del (p.Tyr331fs)

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