ClinVar Miner

List of variants in gene TFR2 studied for Hemochromatosis type 3

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Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.1851C>T (p.Ala617=) rs2075674 0.16252
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_003227.4(TFR2):c.-39C>T rs41302354 0.00844
NM_003227.4(TFR2):c.1449C>T (p.Ser483=) rs41295899 0.00652
NM_003227.4(TFR2):c.135G>A (p.Ala45=) rs141968146 0.00479
NM_003227.4(TFR2):c.1941G>T (p.Gly647=) rs111760099 0.00439
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_003227.4(TFR2):c.*116C>T rs41296648 0.00230
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_003227.4(TFR2):c.1770C>T (p.Asp590=) rs35704760 0.00188
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) rs144665594 0.00184
NM_003227.4(TFR2):c.*142G>A rs578087339 0.00155
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) rs143251494 0.00123
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
NM_003227.4(TFR2):c.473+8T>A rs148902192 0.00103
NM_003227.4(TFR2):c.727-9T>A rs200816061 0.00103
NM_003227.4(TFR2):c.225G>A (p.Ala75=) rs148140889 0.00079
NM_003227.4(TFR2):c.1097G>A (p.Arg366His) rs184812195 0.00078
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) rs80338885 0.00066
NM_003227.4(TFR2):c.767T>G (p.Leu256Arg) rs200287731 0.00062
NM_003227.4(TFR2):c.1682+11G>C rs372807620 0.00054
NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) rs145795884 0.00045
NM_003227.4(TFR2):c.840C>G (p.Phe280Leu) rs151198873 0.00038
NM_003227.4(TFR2):c.849+6T>A rs41303468 0.00036
NM_003227.4(TFR2):c.1391-13C>A rs201483480 0.00034
NM_003227.4(TFR2):c.287-5G>A rs201206874 0.00034
NM_003227.4(TFR2):c.286+15C>T rs372078098 0.00029
NM_003227.4(TFR2):c.1242C>T (p.Phe414=) rs150883560 0.00026
NM_003227.4(TFR2):c.19C>T (p.Leu7=) rs367635364 0.00024
NM_003227.4(TFR2):c.447G>A (p.Gly149=) rs41302366 0.00022
NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) rs573769443 0.00021
NM_003227.4(TFR2):c.1259G>A (p.Arg420His) rs146901123 0.00019
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.303C>T (p.Tyr101=) rs376955913 0.00014
NM_003227.4(TFR2):c.64G>A (p.Val22Ile) rs80338876 0.00014
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003227.4(TFR2):c.1305A>G (p.Ala435=) rs372014293 0.00012
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003227.4(TFR2):c.120C>T (p.Asp40=) rs370005999 0.00010
NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys) rs139383159 0.00010
NM_003227.4(TFR2):c.1620C>T (p.Asn540=) rs199600701 0.00010
NM_003227.4(TFR2):c.726+9C>T rs372020405 0.00010
NM_003227.4(TFR2):c.1747G>A (p.Val583Ile) rs370375593 0.00009
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00009
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.*141C>T rs752115611 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.1179C>T (p.Pro393=) rs149590949 0.00006
NM_003227.4(TFR2):c.1249A>G (p.Ile417Val) rs141101651 0.00006
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) rs749842107 0.00006
NM_003227.4(TFR2):c.462G>A (p.Glu154=) rs761954336 0.00006
NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) rs41303480 0.00005
NM_003227.4(TFR2):c.1279G>A (p.Val427Ile) rs762216388 0.00005
NM_003227.4(TFR2):c.1683-4C>T rs201936620 0.00005
NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) rs774907552 0.00005
NM_003227.4(TFR2):c.2346G>A (p.Thr782=) rs367723987 0.00005
NM_003227.4(TFR2):c.*220C>T rs560786834 0.00004
NM_003227.4(TFR2):c.-8A>T rs146487147 0.00004
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) rs202022975 0.00004
NM_003227.4(TFR2):c.1329C>T (p.Ser443=) rs368298121 0.00004
NM_003227.4(TFR2):c.2184G>A (p.Pro728=) rs982999802 0.00004
NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) rs372198326 0.00004
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00004
NM_003227.4(TFR2):c.674C>T (p.Pro225Leu) rs775428895 0.00004
NM_003227.4(TFR2):c.829G>T (p.Val277Leu) rs754813237 0.00004
NM_003227.4(TFR2):c.906G>A (p.Ala302=) rs146024580 0.00004
NM_003227.4(TFR2):c.1626T>C (p.Ser542=) rs781300326 0.00003
NM_003227.4(TFR2):c.1902C>T (p.Ser634=) rs41295918 0.00003
NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu) rs772659158 0.00003
NM_003227.4(TFR2):c.2268C>T (p.Ser756=) rs760061994 0.00003
NM_003227.4(TFR2):c.1682+4A>C rs756044574 0.00002
NM_003227.4(TFR2):c.2175C>T (p.Ala725=) rs747347518 0.00002
NM_003227.4(TFR2):c.427A>C (p.Met143Leu) rs757241440 0.00002
NM_003227.4(TFR2):c.*280A>C rs1314233014 0.00001
NM_003227.4(TFR2):c.*435T>C rs1373127732 0.00001
NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) rs778433259 0.00001
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) rs143185818 0.00001
NM_003227.4(TFR2):c.1263A>G (p.Ser421=) rs142005608 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003227.4(TFR2):c.134C>T (p.Ala45Val) rs769555821 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00001
NM_003227.4(TFR2):c.1527C>T (p.Asn509=) rs201943504 0.00001
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00001
NM_003227.4(TFR2):c.1606-2A>G rs750609759 0.00001
NM_003227.4(TFR2):c.177T>C (p.Pro59=) rs961591005 0.00001
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) rs1220336558 0.00001
NM_003227.4(TFR2):c.1875C>T (p.Leu625=) rs778534889 0.00001
NM_003227.4(TFR2):c.1956G>A (p.Arg652=) rs1170988281 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.2277C>T (p.Pro759=) rs748376968 0.00001
NM_003227.4(TFR2):c.2400C>T (p.Asn800=) rs766681676 0.00001
NM_003227.4(TFR2):c.420C>G (p.Leu140=) rs778911966 0.00001
NM_003227.4(TFR2):c.474-5C>T rs1369420781 0.00001
NM_003227.4(TFR2):c.515T>A (p.Met172Lys) rs80338879 0.00001
NM_003227.4(TFR2):c.557A>C (p.Gln186Pro) rs375882473 0.00001
NM_003227.4(TFR2):c.615-12C>T rs771264157 0.00001
NM_003227.4(TFR2):c.617C>A (p.Ala206Asp) rs756655285 0.00001
NM_003227.4(TFR2):c.690C>G (p.Asp230Glu) rs41303465 0.00001
NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) rs80338880 0.00001
NM_003227.3(TFR2):c.1540delG rs1803316071
NM_003227.4(TFR2):c.*1G>A rs763463474
NM_003227.4(TFR2):c.*208C>T rs759379957
NM_003227.4(TFR2):c.*55G>A rs986107376
NM_003227.4(TFR2):c.1046C>G (p.Ser349Ter)
NM_003227.4(TFR2):c.1069C>T (p.Gln357Ter)
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs)
NM_003227.4(TFR2):c.10dup (p.Leu4fs)
NM_003227.4(TFR2):c.1132C>T (p.Gln378Ter)
NM_003227.4(TFR2):c.1163del (p.Pro388fs) rs1422733588
NM_003227.4(TFR2):c.1167T>C (p.Tyr389=) rs1803415263
NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) rs144917130
NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del) rs80338883
NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)
NM_003227.4(TFR2):c.123G>C (p.Gly41=) rs779980249
NM_003227.4(TFR2):c.1271-1G>A
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg) rs780902940
NM_003227.4(TFR2):c.1308G>A (p.Trp436Ter)
NM_003227.4(TFR2):c.1316G>A (p.Gly439Glu)
NM_003227.4(TFR2):c.1390+2dup
NM_003227.4(TFR2):c.1398del (p.Arg468fs) rs773050231
NM_003227.4(TFR2):c.140C>T (p.Thr47Ile) rs886061834
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) rs80338886
NM_003227.4(TFR2):c.1470del (p.Glu491fs)
NM_003227.4(TFR2):c.1473+13C>G rs200201634
NM_003227.4(TFR2):c.1474-1G>A
NM_003227.4(TFR2):c.1486G>A (p.Val496Met) rs777532178
NM_003227.4(TFR2):c.1575G>A (p.Leu525=) rs886061833
NM_003227.4(TFR2):c.1605+10C>G rs577722163
NM_003227.4(TFR2):c.1606-8A>G
NM_003227.4(TFR2):c.1665del (p.Ser556fs) rs80338887
NM_003227.4(TFR2):c.1682+1G>T
NM_003227.4(TFR2):c.1682+9G>T rs41295906
NM_003227.4(TFR2):c.1767+1G>T rs2131312371
NM_003227.4(TFR2):c.1767+7C>G rs41295912
NM_003227.4(TFR2):c.1767+7C>T rs41295912
NM_003227.4(TFR2):c.1768-1G>A rs2131312223
NM_003227.4(TFR2):c.1771G>C (p.Asp591His) rs1060502723
NM_003227.4(TFR2):c.1793dup (p.His598fs)
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) rs1803297757
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) rs1246737417
NM_003227.4(TFR2):c.1881del (p.Gln628fs)
NM_003227.4(TFR2):c.190T>C (p.Ser64Pro) rs1639890217
NM_003227.4(TFR2):c.1920C>T (p.Pro640=) rs539909716
NM_003227.4(TFR2):c.1921del (p.Leu641fs)
NM_003227.4(TFR2):c.193del (p.Arg65fs)
NM_003227.4(TFR2):c.1974C>T (p.Asn658=) rs1803289281
NM_003227.4(TFR2):c.1995+1G>T
NM_003227.4(TFR2):c.1995+2T>A
NM_003227.4(TFR2):c.2158C>T (p.Gln720Ter)
NM_003227.4(TFR2):c.2168C>A (p.Ser723Ter)
NM_003227.4(TFR2):c.2183dup (p.Phe729fs) rs1803096138
NM_003227.4(TFR2):c.219del (p.Trp74fs)
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) rs1463281712
NM_003227.4(TFR2):c.2227del (p.Ala743fs)
NM_003227.4(TFR2):c.2228C>T (p.Ala743Val) rs80338875
NM_003227.4(TFR2):c.2236dup (p.Asp746fs) rs777027788
NM_003227.4(TFR2):c.2248C>G (p.Leu750Val) rs1803091207
NM_003227.4(TFR2):c.2318_2324delinsTGGAAACG (p.Arg773fs)
NM_003227.4(TFR2):c.233G>T (p.Gly78Val) rs763004927
NM_003227.4(TFR2):c.2350C>T (p.Gln784Ter)
NM_003227.4(TFR2):c.286+1G>T rs756989018
NM_003227.4(TFR2):c.286+1del
NM_003227.4(TFR2):c.287-2A>G
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.33+1del rs1803699632
NM_003227.4(TFR2):c.34-2A>C
NM_003227.4(TFR2):c.34-2A>G
NM_003227.4(TFR2):c.345_346del (p.Leu116fs)
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) rs2131328001
NM_003227.4(TFR2):c.37C>T (p.Gln13Ter)
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) rs868823304
NM_003227.4(TFR2):c.410G>A (p.Trp137Ter)
NM_003227.4(TFR2):c.415G>C (p.Asp139His) rs758059366
NM_003227.4(TFR2):c.443dup (p.Glu150fs)
NM_003227.4(TFR2):c.473+49C>A rs80338874
NM_003227.4(TFR2):c.474-7C>T rs1803512794
NM_003227.4(TFR2):c.523_524del (p.Leu175fs)
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter)
NM_003227.4(TFR2):c.591C>G (p.Tyr197Ter)
NM_003227.4(TFR2):c.651del (p.Lys219fs)
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) rs763292953
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.66_67del (p.Tyr23fs)
NM_003227.4(TFR2):c.671T>G (p.Leu224Arg) rs1803502704
NM_003227.4(TFR2):c.726+10C>T rs1803500633
NM_003227.4(TFR2):c.727G>T (p.Gly243Ter)
NM_003227.4(TFR2):c.741C>G (p.Tyr247Ter)
NM_003227.4(TFR2):c.754_763delinsGCGTAC (p.Arg252fs)
NM_003227.4(TFR2):c.759C>A (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.822C>T (p.Arg274=) rs1262970273
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) rs1398396879
NM_003227.4(TFR2):c.880G>T (p.Gly294Ter)
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) rs80338881
NM_003227.4(TFR2):c.97C>A (p.His33Asn) rs80338873

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