ClinVar Miner

List of variants in gene TFR2 studied for Hereditary hemochromatosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 817
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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.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 0.00417
NM_003227.4(TFR2):c.1270+16A>G rs185470250 0.00399
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00296
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00274
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00212
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.2389A>G (p.Ile797Val) rs41296645 0.00151
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) rs143251494 0.00113
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.473+12C>T rs200864701 0.00096
NM_003227.4(TFR2):c.1473+16G>A rs186378421 0.00089
NM_003227.4(TFR2):c.1682+13G>C rs566516530 0.00079
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.849+6T>A rs41303468 0.00051
NM_003227.4(TFR2):c.1682+11G>C rs372807620 0.00047
NM_003227.4(TFR2):c.817G>A (p.Val273Met) rs140150109 0.00046
NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) rs145795884 0.00043
NM_003227.4(TFR2):c.840C>G (p.Phe280Leu) rs151198873 0.00038
NM_003227.4(TFR2):c.1270+15C>T rs200597967 0.00035
NM_003227.4(TFR2):c.1391-13C>A rs201483480 0.00034
NM_003227.4(TFR2):c.287-5G>A rs201206874 0.00032
NM_003227.4(TFR2):c.1812T>C (p.Tyr604=) rs147286030 0.00029
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.1513G>A (p.Val505Met) rs148541221 0.00026
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.1653G>A (p.Val551=) rs369913499 0.00021
NM_003227.4(TFR2):c.19C>T (p.Leu7=) rs367635364 0.00021
NM_003227.4(TFR2):c.1473+19C>T rs373025420 0.00020
NM_003227.4(TFR2):c.1538-16C>T rs368814331 0.00017
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00015
NM_003227.4(TFR2):c.303C>T (p.Tyr101=) rs376955913 0.00015
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00014
NM_003227.4(TFR2):c.1305A>G (p.Ala435=) rs372014293 0.00012
NM_003227.4(TFR2):c.1620C>T (p.Asn540=) rs199600701 0.00011
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00011
NM_003227.4(TFR2):c.726+9C>T rs372020405 0.00011
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.1683-13C>T rs200217701 0.00010
NM_003227.4(TFR2):c.1959C>T (p.His653=) rs770431152 0.00009
NM_003227.4(TFR2):c.287-6C>T rs374377284 0.00009
NM_003227.4(TFR2):c.33G>A (p.Ala11=) rs111840506 0.00009
NM_003227.4(TFR2):c.1878A>C (p.Ala626=) rs370288878 0.00007
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.330G>A (p.Ala110=) rs542567285 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.1149C>T (p.Ser383=) rs757050571 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.184C>T (p.Leu62=) rs912723491 0.00006
NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) rs749842107 0.00006
NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) rs187119131 0.00006
NM_003227.4(TFR2):c.89G>A (p.Arg30Gln) rs750603454 0.00006
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) rs202022975 0.00005
NM_003227.4(TFR2):c.1538-12C>A rs41295903 0.00005
NM_003227.4(TFR2):c.1538-19T>C rs886905130 0.00005
NM_003227.4(TFR2):c.1548G>A (p.Lys516=) rs373936655 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.2346G>A (p.Thr782=) rs367723987 0.00005
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00005
NM_003227.4(TFR2):c.286+10G>A rs375405962 0.00005
NM_003227.4(TFR2):c.479C>T (p.Thr160Ile) rs746602701 0.00005
NM_003227.4(TFR2):c.523C>G (p.Leu175Val) rs377287303 0.00005
NM_003227.4(TFR2):c.727-17C>A rs746033859 0.00005
NM_003227.4(TFR2):c.1344T>C (p.Ala448=) rs774991526 0.00004
NM_003227.4(TFR2):c.1473+8G>A rs759461055 0.00004
NM_003227.4(TFR2):c.1767+19G>A rs371316105 0.00004
NM_003227.4(TFR2):c.2184G>A (p.Pro728=) rs982999802 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.474-6G>T rs780713293 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.1096C>T (p.Arg366Cys) rs764311239 0.00003
NM_003227.4(TFR2):c.1275C>T (p.His425=) rs746034002 0.00003
NM_003227.4(TFR2):c.1329C>T (p.Ser443=) rs368298121 0.00003
NM_003227.4(TFR2):c.1390+19C>T rs775080669 0.00003
NM_003227.4(TFR2):c.1391-6C>T rs773308636 0.00003
NM_003227.4(TFR2):c.1473+10G>A rs374546301 0.00003
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00003
NM_003227.4(TFR2):c.1650G>C (p.Val550=) rs757088606 0.00003
NM_003227.4(TFR2):c.1767+16C>T rs374192716 0.00003
NM_003227.4(TFR2):c.1902C>T (p.Ser634=) rs41295918 0.00003
NM_003227.4(TFR2):c.1938C>T (p.Tyr646=) rs1324815806 0.00003
NM_003227.4(TFR2):c.2163C>T (p.Tyr721=) rs41295939 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.2289C>T (p.Ser763=) rs374915672 0.00003
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00003
NM_003227.4(TFR2):c.123G>A (p.Gly41=) rs779980249 0.00002
NM_003227.4(TFR2):c.1390+10G>A rs1215345116 0.00002
NM_003227.4(TFR2):c.1473+15C>T rs201082151 0.00002
NM_003227.4(TFR2):c.1473+7C>T rs772014889 0.00002
NM_003227.4(TFR2):c.1537+14G>T rs761297359 0.00002
NM_003227.4(TFR2):c.1605+9A>G rs771540356 0.00002
NM_003227.4(TFR2):c.1626T>C (p.Ser542=) rs781300326 0.00002
NM_003227.4(TFR2):c.1683-15C>T rs758038845 0.00002
NM_003227.4(TFR2):c.1683-7C>T rs765554083 0.00002
NM_003227.4(TFR2):c.1767+20C>G rs775498234 0.00002
NM_003227.4(TFR2):c.1767+5G>A rs894600504 0.00002
NM_003227.4(TFR2):c.1768-20C>T rs779551068 0.00002
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) rs1220336558 0.00002
NM_003227.4(TFR2):c.1881G>A (p.Gly627=) rs1473059340 0.00002
NM_003227.4(TFR2):c.2196C>A (p.Ile732=) rs749382174 0.00002
NM_003227.4(TFR2):c.2219C>T (p.Thr740Met) rs150806077 0.00002
NM_003227.4(TFR2):c.2223G>A (p.Leu741=) rs527966428 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.2376G>A (p.Gly792=) rs767243748 0.00002
NM_003227.4(TFR2):c.33+20G>A rs368370021 0.00002
NM_003227.4(TFR2):c.334G>A (p.Gly112Arg) rs759961080 0.00002
NM_003227.4(TFR2):c.34-11C>T rs749286028 0.00002
NM_003227.4(TFR2):c.441C>T (p.Phe147=) rs777107486 0.00002
NM_003227.4(TFR2):c.489G>T (p.Arg163=) rs141943282 0.00002
NM_003227.4(TFR2):c.591C>T (p.Tyr197=) rs779594895 0.00002
NM_003227.4(TFR2):c.795T>C (p.Asp265=) rs779026536 0.00002
NM_003227.4(TFR2):c.849+14G>A rs764877859 0.00002
NM_003227.4(TFR2):c.850-12C>T rs1432621218 0.00002
NM_003227.4(TFR2):c.967-12C>T rs1181020710 0.00002
NM_003227.4(TFR2):c.1098C>T (p.Arg366=) rs752887870 0.00001
NM_003227.4(TFR2):c.1106+12G>A rs1339278891 0.00001
NM_003227.4(TFR2):c.1106+7G>C rs1207873255 0.00001
NM_003227.4(TFR2):c.1107-4C>T rs1355173070 0.00001
NM_003227.4(TFR2):c.1113C>T (p.Leu371=) rs1185718641 0.00001
NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) rs778433259 0.00001
NM_003227.4(TFR2):c.1153C>T (p.Leu385=) rs999797341 0.00001
NM_003227.4(TFR2):c.1161C>T (p.Ser387=) rs774163818 0.00001
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1218C>T (p.Thr406=) rs762731224 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.1263A>G (p.Ser421=) rs142005608 0.00001
NM_003227.4(TFR2):c.1270+1G>C rs1803411479 0.00001
NM_003227.4(TFR2):c.1270+9T>C rs2131316917 0.00001
NM_003227.4(TFR2):c.1278C>T (p.Tyr426=) rs535869195 0.00001
NM_003227.4(TFR2):c.1286dup (p.Gly430fs) rs1803363753 0.00001
NM_003227.4(TFR2):c.1287C>T (p.Ile429=) rs747965768 0.00001
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg) rs780902940 0.00001
NM_003227.4(TFR2):c.1351C>T (p.Leu451=) rs1040654031 0.00001
NM_003227.4(TFR2):c.1362_1363insT (p.Arg455fs) rs1020301245 0.00001
NM_003227.4(TFR2):c.1377C>T (p.Ser459=) rs1215920663 0.00001
NM_003227.4(TFR2):c.1391-11T>C rs1322159636 0.00001
NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile) rs772104483 0.00001
NM_003227.4(TFR2):c.1431C>T (p.Asp477=) rs778438972 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1470A>G (p.Leu490=) rs1481234304 0.00001
NM_003227.4(TFR2):c.1470del (p.Glu491fs) rs2131313576 0.00001
NM_003227.4(TFR2):c.1473+14C>A rs374113312 0.00001
NM_003227.4(TFR2):c.1474-10C>T rs1320274055 0.00001
NM_003227.4(TFR2):c.1474-18C>T rs747728512 0.00001
NM_003227.4(TFR2):c.1474-1G>A rs931476373 0.00001
NM_003227.4(TFR2):c.1474-9C>T rs768409892 0.00001
NM_003227.4(TFR2):c.1503C>T (p.Ala501=) rs754040201 0.00001
NM_003227.4(TFR2):c.1527C>T (p.Asn509=) rs201943504 0.00001
NM_003227.4(TFR2):c.1537+11G>A rs1269797253 0.00001
NM_003227.4(TFR2):c.1537+7T>C rs1315674743 0.00001
NM_003227.4(TFR2):c.1538-11C>T rs1803316574 0.00001
NM_003227.4(TFR2):c.1538-18C>T rs377108556 0.00001
NM_003227.4(TFR2):c.153C>T (p.Phe51=) rs747497732 0.00001
NM_003227.4(TFR2):c.1557C>G (p.Ala519=) rs1250749215 0.00001
NM_003227.4(TFR2):c.1605+19T>C rs978913572 0.00001
NM_003227.4(TFR2):c.1606-13C>T rs1212399563 0.00001
NM_003227.4(TFR2):c.1606-2A>G rs750609759 0.00001
NM_003227.4(TFR2):c.1611T>C (p.Asp537=) rs763299493 0.00001
NM_003227.4(TFR2):c.1619A>G (p.Asn540Ser) rs770274506 0.00001
NM_003227.4(TFR2):c.1638C>A (p.Leu546=) rs903250919 0.00001
NM_003227.4(TFR2):c.1682+10G>C rs751258355 0.00001
NM_003227.4(TFR2):c.1682+8G>A rs1357813557 0.00001
NM_003227.4(TFR2):c.1683-11C>T rs1289257053 0.00001
NM_003227.4(TFR2):c.1683-17A>C rs766102069 0.00001
NM_003227.4(TFR2):c.1683-4C>T rs201936620 0.00001
NM_003227.4(TFR2):c.171G>A (p.Arg57=) rs758440377 0.00001
NM_003227.4(TFR2):c.1728C>A (p.Ala576=) rs1803303178 0.00001
NM_003227.4(TFR2):c.1746C>T (p.Ala582=) rs781258602 0.00001
NM_003227.4(TFR2):c.1752G>A (p.Glu584=) rs1219900591 0.00001
NM_003227.4(TFR2):c.1768-19G>A rs757861321 0.00001
NM_003227.4(TFR2):c.1768-4G>A rs911003123 0.00001
NM_003227.4(TFR2):c.177T>C (p.Pro59=) rs961591005 0.00001
NM_003227.4(TFR2):c.1848C>T (p.Pro616=) rs1004353651 0.00001
NM_003227.4(TFR2):c.1875C>T (p.Leu625=) rs778534889 0.00001
NM_003227.4(TFR2):c.1884G>A (p.Gln628=) rs778041715 0.00001
NM_003227.4(TFR2):c.1896G>A (p.Arg632=) rs1291134295 0.00001
NM_003227.4(TFR2):c.1899C>G (p.Leu633=) rs1446194909 0.00001
NM_003227.4(TFR2):c.1929C>T (p.Phe643=) rs1280897931 0.00001
NM_003227.4(TFR2):c.1939G>A (p.Gly647Arg) rs759540608 0.00001
NM_003227.4(TFR2):c.1956G>A (p.Arg652=) rs1170988281 0.00001
NM_003227.4(TFR2):c.1992C>T (p.Leu664=) rs1345243339 0.00001
NM_003227.4(TFR2):c.1995+19G>A rs377134666 0.00001
NM_003227.4(TFR2):c.2137-14C>T rs532499640 0.00001
NM_003227.4(TFR2):c.2137-16C>T rs1191398149 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.2137-4G>A rs1255761537 0.00001
NM_003227.4(TFR2):c.2169G>A (p.Ser723=) rs776336894 0.00001
NM_003227.4(TFR2):c.2175C>T (p.Ala725=) rs747347518 0.00001
NM_003227.4(TFR2):c.2226C>T (p.Gly742=) rs1017609666 0.00001
NM_003227.4(TFR2):c.2233C>T (p.Leu745=) rs988853862 0.00001
NM_003227.4(TFR2):c.2238C>T (p.Asp746=) rs761382119 0.00001
NM_003227.4(TFR2):c.2250G>T (p.Leu750=) rs1352362365 0.00001
NM_003227.4(TFR2):c.2253G>A (p.Leu751=) rs1231883386 0.00001
NM_003227.4(TFR2):c.2254C>T (p.Arg752Cys) rs1028494790 0.00001
NM_003227.4(TFR2):c.2259C>T (p.Ser753=) rs1030428409 0.00001
NM_003227.4(TFR2):c.2274C>T (p.Thr758=) rs777761117 0.00001
NM_003227.4(TFR2):c.2277C>T (p.Pro759=) rs748376968 0.00001
NM_003227.4(TFR2):c.2283C>T (p.Ala761=) rs778880340 0.00001
NM_003227.4(TFR2):c.2318G>A (p.Arg773Gln) rs369462289 0.00001
NM_003227.4(TFR2):c.2340C>T (p.Thr780=) rs748289130 0.00001
NM_003227.4(TFR2):c.2349G>A (p.Leu783=) rs757180293 0.00001
NM_003227.4(TFR2):c.2355G>A (p.Gly785=) rs749184953 0.00001
NM_003227.4(TFR2):c.2373C>T (p.Ser791=) rs752321424 0.00001
NM_003227.4(TFR2):c.2382C>T (p.Val794=) rs754723009 0.00001
NM_003227.4(TFR2):c.2400C>T (p.Asn800=) rs766681676 0.00001
NM_003227.4(TFR2):c.240G>A (p.Arg80=) rs769465224 0.00001
NM_003227.4(TFR2):c.246C>A (p.Ala82=) rs761515555 0.00001
NM_003227.4(TFR2):c.264G>A (p.Thr88=) rs747341157 0.00001
NM_003227.4(TFR2):c.282T>C (p.Thr94=) rs143742219 0.00001
NM_003227.4(TFR2):c.286+14C>G rs754012192 0.00001
NM_003227.4(TFR2):c.286+4A>C rs1803687135 0.00001
NM_003227.4(TFR2):c.286+9C>T rs1205031107 0.00001
NM_003227.4(TFR2):c.287-18C>G rs1803685410 0.00001
NM_003227.4(TFR2):c.287-19C>G rs763837146 0.00001
NM_003227.4(TFR2):c.306C>T (p.Val102=) rs779670334 0.00001
NM_003227.4(TFR2):c.318G>A (p.Gly106=) rs757334627 0.00001
NM_003227.4(TFR2):c.333C>T (p.Cys111=) rs767726878 0.00001
NM_003227.4(TFR2):c.414C>T (p.Ser138=) rs781487547 0.00001
NM_003227.4(TFR2):c.417C>T (p.Asp139=) rs745656362 0.00001
NM_003227.4(TFR2):c.420C>G (p.Leu140=) rs778911966 0.00001
NM_003227.4(TFR2):c.462G>A (p.Glu154=) rs761954336 0.00001
NM_003227.4(TFR2):c.473+10G>A rs201039913 0.00001
NM_003227.4(TFR2):c.474-20C>T rs777497479 0.00001
NM_003227.4(TFR2):c.474-5C>T rs1369420781 0.00001
NM_003227.4(TFR2):c.480C>G (p.Thr160=) rs779683159 0.00001
NM_003227.4(TFR2):c.510C>T (p.Ala170=) rs199819126 0.00001
NM_003227.4(TFR2):c.534C>T (p.Asp178=) rs369114121 0.00001
NM_003227.4(TFR2):c.546G>C (p.Ala182=) rs1803510127 0.00001
NM_003227.4(TFR2):c.570C>T (p.His190=) rs1178849216 0.00001
NM_003227.4(TFR2):c.572T>C (p.Val191Ala) rs776558626 0.00001
NM_003227.4(TFR2):c.615-12C>T rs771264157 0.00001
NM_003227.4(TFR2):c.615-9G>A rs371250117 0.00001
NM_003227.4(TFR2):c.63C>T (p.Thr21=) rs1189743234 0.00001
NM_003227.4(TFR2):c.702C>T (p.Pro234=) rs2131320436 0.00001
NM_003227.4(TFR2):c.705C>T (p.Tyr235=) rs773981603 0.00001
NM_003227.4(TFR2):c.726+16C>T rs907171106 0.00001
NM_003227.4(TFR2):c.727-10G>C rs1157089802 0.00001
NM_003227.4(TFR2):c.727-18C>T rs199498865 0.00001
NM_003227.4(TFR2):c.727-6C>T rs752480106 0.00001
NM_003227.4(TFR2):c.727-7T>C rs1803497133 0.00001
NM_003227.4(TFR2):c.768G>C (p.Leu256=) rs761605882 0.00001
NM_003227.4(TFR2):c.813G>A (p.Leu271=) rs757450980 0.00001
NM_003227.4(TFR2):c.822C>G (p.Arg274=) rs1262970273 0.00001
NM_003227.4(TFR2):c.849+18G>A rs1276828235 0.00001
NM_003227.4(TFR2):c.849+20G>A rs1446559111 0.00001
NM_003227.4(TFR2):c.850-11T>C rs778515422 0.00001
NM_003227.4(TFR2):c.850-17G>A rs758378769 0.00001
NM_003227.4(TFR2):c.867C>T (p.Asp289=) rs1303532409 0.00001
NM_003227.4(TFR2):c.873G>C (p.Gly291=) rs1457191527 0.00001
NM_003227.4(TFR2):c.915C>G (p.Ser305=) rs555372856 0.00001
NM_003227.4(TFR2):c.954A>C (p.Ala318=) rs1158763486 0.00001
NM_003227.4(TFR2):c.966+1G>C rs2131318652 0.00001
NM_003227.4(TFR2):c.966+5G>A rs1319622152 0.00001
NM_003227.4(TFR2):c.966+9G>A rs1803454039 0.00001
NM_003227.4(TFR2):c.967-14C>T rs2486129186 0.00001
NM_003227.4(TFR2):c.967-15C>T rs377236414 0.00001
NM_003227.4(TFR2):c.969G>A (p.Val323=) rs1448823899 0.00001
NM_003227.4(TFR2):c.972C>T (p.His324=) rs764399097 0.00001
NM_003227.4(TFR2):c.984A>C (p.Gly328=) rs372774524 0.00001
NM_003227.4(TFR2):c.987C>T (p.Asp329=) rs749202899 0.00001
NM_003227.4(TFR2):c.99C>A (p.His33Gln) rs765387386 0.00001
NC_000007.13:g.(?_100224366)_(100227015_?)dup
NC_000007.13:g.(?_100226866)_(100227005_?)del
NC_000007.14:g.(?_100640676)_(100641519_?)del
NC_000007.14:g.(?_100640680)_(100641515_?)del
NM_003227.4(TFR2):c.1026G>A (p.Gln342=) rs751280511
NM_003227.4(TFR2):c.1039G>A (p.Ala347Thr)
NM_003227.4(TFR2):c.1047A>G (p.Ser349=) rs763998097
NM_003227.4(TFR2):c.1050C>A (p.Gly350=) rs2486128942
NM_003227.4(TFR2):c.1050C>G (p.Gly350=)
NM_003227.4(TFR2):c.1053T>C (p.Leu351=) rs2486128938
NM_003227.4(TFR2):c.105G>A (p.Glu35=) rs150215166
NM_003227.4(TFR2):c.1062C>T (p.Ile354=) rs1584459503
NM_003227.4(TFR2):c.1065A>G (p.Pro355=) rs2486128910
NM_003227.4(TFR2):c.1068C>T (p.Ala356=) rs2131318288
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs) rs2486128874
NM_003227.4(TFR2):c.1074C>T (p.Pro358=) rs780417157
NM_003227.4(TFR2):c.1086C>T (p.Asp362=) rs2486128846
NM_003227.4(TFR2):c.1095C>G (p.Ser365=) rs753945775
NM_003227.4(TFR2):c.1099C>T (p.Leu367=) rs2131318200
NM_003227.4(TFR2):c.1101G>C (p.Leu367=) rs1584459424
NM_003227.4(TFR2):c.1104G>C (p.Leu368=) rs766143658
NM_003227.4(TFR2):c.1106+13T>C rs1464488680
NM_003227.4(TFR2):c.1106+15G>A rs2486128706
NM_003227.4(TFR2):c.1106+18G>T rs2486128696
NM_003227.4(TFR2):c.1106+20C>T rs929108198
NM_003227.4(TFR2):c.1106+2T>G rs762648897
NM_003227.4(TFR2):c.1106+7G>T rs1207873255
NM_003227.4(TFR2):c.1107-11C>G rs2486126977
NM_003227.4(TFR2):c.1107-15C>T rs1050275436
NM_003227.4(TFR2):c.1107-19C>T rs2486127007
NM_003227.4(TFR2):c.1107-20del
NM_003227.4(TFR2):c.1107-20dup
NM_003227.4(TFR2):c.1107-3C>T rs1421153041
NM_003227.4(TFR2):c.1107-4C>A rs1355173070
NM_003227.4(TFR2):c.1107-4C>G rs1355173070
NM_003227.4(TFR2):c.1107-8C>G rs2486126967
NM_003227.4(TFR2):c.1113C>A (p.Leu371=) rs1185718641
NM_003227.4(TFR2):c.1115_1116del (p.Lys372fs) rs1803418157
NM_003227.4(TFR2):c.1117G>C (p.Gly373Arg) rs1803418029
NM_003227.4(TFR2):c.111A>G (p.Glu37=) rs2486147796
NM_003227.4(TFR2):c.1132dup (p.Gln378fs) rs753747243
NM_003227.4(TFR2):c.1146G>A (p.Gly382=) rs2486126839
NM_003227.4(TFR2):c.1146G>C (p.Gly382=) rs2486126839
NM_003227.4(TFR2):c.1152C>T (p.Leu384=) rs2131317162
NM_003227.4(TFR2):c.1158C>T (p.Gly386=) rs759064628
NM_003227.4(TFR2):c.1163del (p.Pro388fs) rs1422733588
NM_003227.4(TFR2):c.1170C>T (p.His390=) rs1184777850
NM_003227.4(TFR2):c.1179del (p.Pro395fs) rs2486126656
NM_003227.4(TFR2):c.1185A>G (p.Pro395=) rs2131317088
NM_003227.4(TFR2):c.1188A>G (p.Arg396=) rs2486126600
NM_003227.4(TFR2):c.1191G>A (p.Leu397=)
NM_003227.4(TFR2):c.1192C>G (p.Arg398Gly) rs138189378
NM_003227.4(TFR2):c.1200G>A (p.Val400=)
NM_003227.4(TFR2):c.1205dup (p.Asn402fs)
NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) rs144917130
NM_003227.4(TFR2):c.1206C>T (p.Asn402=) rs144917130
NM_003227.4(TFR2):c.1209T>C (p.Asn403=) rs2486126513
NM_003227.4(TFR2):c.1224C>A (p.Thr408=) rs1438781560
NM_003227.4(TFR2):c.123G>C (p.Gly41=) rs779980249
NM_003227.4(TFR2):c.1248C>T (p.Cys416=) rs2131316970
NM_003227.4(TFR2):c.124del (p.Glu42fs) rs2486147767
NM_003227.4(TFR2):c.1251C>A (p.Ile417=) rs747076627
NM_003227.4(TFR2):c.1251C>T (p.Ile417=) rs747076627
NM_003227.4(TFR2):c.1257C>G (p.Gly419=) rs2486126389
NM_003227.4(TFR2):c.1270+10G>A rs2131316913
NM_003227.4(TFR2):c.1270+11T>G rs777383473
NM_003227.4(TFR2):c.1270+12G>A rs2486126315
NM_003227.4(TFR2):c.1270+16A>T rs185470250
NM_003227.4(TFR2):c.1270+7T>A rs2131316920
NM_003227.4(TFR2):c.1271-18_1271-17del
NM_003227.4(TFR2):c.1271-4C>G rs1803364274
NM_003227.4(TFR2):c.1271-6C>T rs2486123222
NM_003227.4(TFR2):c.1271-8C>T rs2486123225
NM_003227.4(TFR2):c.1288G>C (p.Gly430Arg) rs780902940
NM_003227.4(TFR2):c.1293C>T (p.Ala431=) rs2131315021
NM_003227.4(TFR2):c.1300G>A (p.Asp434Asn) rs887907860
NM_003227.4(TFR2):c.1305A>C (p.Ala435=) rs372014293
NM_003227.4(TFR2):c.1350C>A (p.Leu450=) rs772076371
NM_003227.4(TFR2):c.1350C>T (p.Leu450=) rs772076371
NM_003227.4(TFR2):c.1359G>C (p.Leu453=) rs2486122961
NM_003227.4(TFR2):c.1362G>A (p.Val454=) rs2131314908
NM_003227.4(TFR2):c.1368C>A (p.Thr456=) rs2486122900
NM_003227.4(TFR2):c.1371T>C (p.Phe457=) rs148855326
NM_003227.4(TFR2):c.1374C>T (p.Ser458=) rs2486122890
NM_003227.4(TFR2):c.1391-12C>T rs2486120531
NM_003227.4(TFR2):c.1391-14C>T
NM_003227.4(TFR2):c.1391-1G>A rs773320398
NM_003227.4(TFR2):c.1391-4C>A rs2131313696
NM_003227.4(TFR2):c.1391-5C>T rs1418482182
NM_003227.4(TFR2):c.1398del (p.Arg468fs) rs773050231
NM_003227.4(TFR2):c.1401C>T (p.Pro467=) rs1562839276
NM_003227.4(TFR2):c.1405A>C (p.Arg469=) rs2486120446
NM_003227.4(TFR2):c.1416C>T (p.Leu472=) rs1214413763
NM_003227.4(TFR2):c.142T>C (p.Leu48=) rs2486147722
NM_003227.4(TFR2):c.1455C>A (p.Gly485=) rs2131313605
NM_003227.4(TFR2):c.1455C>T (p.Gly485=) rs2131313605
NM_003227.4(TFR2):c.1464G>A (p.Glu488=)
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter) rs1803324863
NM_003227.4(TFR2):c.1467_1468delinsAT (p.Trp489_Leu490delinsTer) rs2486120240
NM_003227.4(TFR2):c.1473+10G>T rs374546301
NM_003227.4(TFR2):c.1473+11G>A rs2486120155
NM_003227.4(TFR2):c.1473+11del rs771822800
NM_003227.4(TFR2):c.1473+12T>C rs774161209
NM_003227.4(TFR2):c.1473+13C>G rs200201634
NM_003227.4(TFR2):c.1473+1G>A rs2131313564
NM_003227.4(TFR2):c.1473+7C>G rs772014889
NM_003227.4(TFR2):c.1474-11C>T rs2486119955
NM_003227.4(TFR2):c.1474-8A>G rs1272452597
NM_003227.4(TFR2):c.1479C>T (p.Tyr493=) rs2486119813
NM_003227.4(TFR2):c.1485C>T (p.Ser495=) rs373415641
NM_003227.4(TFR2):c.1486G>A (p.Val496Met) rs777532178
NM_003227.4(TFR2):c.1491G>C (p.Leu497=) rs2131313368
NM_003227.4(TFR2):c.1503C>G (p.Ala501=) rs754040201
NM_003227.4(TFR2):c.1512C>T (p.Tyr504=) rs761009757
NM_003227.4(TFR2):c.1518C>T (p.Ser506=) rs762832274
NM_003227.4(TFR2):c.1521G>A (p.Leu507=) rs1803319802
NM_003227.4(TFR2):c.1537+12C>G rs1333878515
NM_003227.4(TFR2):c.1537+16G>A rs1391747836
NM_003227.4(TFR2):c.1537+18C>T rs1803318604
NM_003227.4(TFR2):c.1537+8G>T rs1246851167
NM_003227.4(TFR2):c.1538-10C>T rs2486119371
NM_003227.4(TFR2):c.1538-13_1538-9del rs778860645
NM_003227.4(TFR2):c.1538-15C>T rs2486119400
NM_003227.4(TFR2):c.1538-18CCCCT[3] rs778860645
NM_003227.4(TFR2):c.1538-1G>A rs1803316195
NM_003227.4(TFR2):c.1538-4C>T rs899733813
NM_003227.4(TFR2):c.1538-5T>A rs2131313116
NM_003227.4(TFR2):c.1538-5T>C rs2131313116
NM_003227.4(TFR2):c.1538-6T>C rs2486119333
NM_003227.4(TFR2):c.1538-8T>A rs2131313118
NM_003227.4(TFR2):c.1554T>C (p.His518=) rs765131429
NM_003227.4(TFR2):c.1560G>A (p.Lys520=) rs1803315193
NM_003227.4(TFR2):c.156C>T (p.Cys52=) rs1324111442
NM_003227.4(TFR2):c.1575G>A (p.Leu525=) rs886061833
NM_003227.4(TFR2):c.1578A>G (p.Thr526=) rs1228060941
NM_003227.4(TFR2):c.1584C>T (p.Leu528=) rs1803314360
NM_003227.4(TFR2):c.1593T>C (p.Ser531=) rs2486119110
NM_003227.4(TFR2):c.1596C>T (p.Val532=) rs1051822153
NM_003227.4(TFR2):c.1599G>A (p.Leu533=) rs1222647216
NM_003227.4(TFR2):c.159C>T (p.Pro53=) rs2486147700
NM_003227.4(TFR2):c.1602G>A (p.Lys534=) rs1323881081
NM_003227.4(TFR2):c.1605+10C>G rs577722163
NM_003227.4(TFR2):c.1605+10C>T rs577722163
NM_003227.4(TFR2):c.1605+19T>G rs978913572
NM_003227.4(TFR2):c.1605+7G>A rs2486119071
NM_003227.4(TFR2):c.1606-15T>C rs754890555
NM_003227.4(TFR2):c.1606-20T>G rs2486118897
NM_003227.4(TFR2):c.1606-4C>T rs2131312825
NM_003227.4(TFR2):c.1606-5C>A rs2486118840
NM_003227.4(TFR2):c.1606-5C>T rs2486118840
NM_003227.4(TFR2):c.1606-6C>T rs376917998
NM_003227.4(TFR2):c.1606-8A>T
NM_003227.4(TFR2):c.1608G>C (p.Val536=) rs890421829
NM_003227.4(TFR2):c.1617C>A (p.Pro539=) rs1408470468
NM_003227.4(TFR2):c.1629G>A (p.Gly543=) rs2131312753
NM_003227.4(TFR2):c.1629del (p.Gln544fs) rs749211542
NM_003227.4(TFR2):c.1635T>C (p.Thr545=) rs2486118747
NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer) rs1803309728
NM_003227.4(TFR2):c.1644A>G (p.Glu548=) rs2131312732
NM_003227.4(TFR2):c.1665C>T (p.Pro555=) rs1803308839
NM_003227.4(TFR2):c.1682+10G>A rs751258355
NM_003227.4(TFR2):c.1682+11G>A rs372807620
NM_003227.4(TFR2):c.1682+11G>T rs372807620
NM_003227.4(TFR2):c.1682+12G>T
NM_003227.4(TFR2):c.1682+13G>A rs566516530
NM_003227.4(TFR2):c.1682+13_1682+14dup rs563694182
NM_003227.4(TFR2):c.1682+14G>A rs762251269
NM_003227.4(TFR2):c.1682+14del rs563694182
NM_003227.4(TFR2):c.1682+14dup rs563694182
NM_003227.4(TFR2):c.1682+18G>A
NM_003227.4(TFR2):c.1682+1G>A
NM_003227.4(TFR2):c.1682+1G>C
NM_003227.4(TFR2):c.1682+20A>G
NM_003227.4(TFR2):c.1682+8G>C rs1357813557
NM_003227.4(TFR2):c.1682+8G>T rs1357813557
NM_003227.4(TFR2):c.1682+9G>A rs41295906
NM_003227.4(TFR2):c.1682+9G>C rs41295906
NM_003227.4(TFR2):c.1682+9G>T rs41295906
NM_003227.4(TFR2):c.1683-11C>A rs1289257053
NM_003227.4(TFR2):c.1683-19C>G rs963878047
NM_003227.4(TFR2):c.1686C>A (p.Ile562=) rs2131312496
NM_003227.4(TFR2):c.1698C>T (p.Pro566=) rs560458124
NM_003227.4(TFR2):c.1704C>T (p.Asp568=) rs1803303920
NM_003227.4(TFR2):c.1713C>T (p.Ala571=) rs1803303583
NM_003227.4(TFR2):c.1725G>C (p.Thr575=)
NM_003227.4(TFR2):c.1728C>T (p.Ala576=) rs1803303178
NM_003227.4(TFR2):c.1740C>A (p.Val580=) rs769477274
NM_003227.4(TFR2):c.1746del (p.Val583fs) rs1562838535
NM_003227.4(TFR2):c.1749C>G (p.Val583=) rs1300769708
NM_003227.4(TFR2):c.1749C>T (p.Val583=) rs1300769708
NM_003227.4(TFR2):c.174C>T (p.Gly58=) rs1398812223
NM_003227.4(TFR2):c.1766A>T (p.Glu589Val)
NM_003227.4(TFR2):c.1767+13C>T rs754267660
NM_003227.4(TFR2):c.1767+1G>T rs2131312371
NM_003227.4(TFR2):c.1767+6A>T rs750051302
NM_003227.4(TFR2):c.1767+7C>G rs41295912
NM_003227.4(TFR2):c.1767+7C>T rs41295912
NM_003227.4(TFR2):c.1767+8G>A rs1803301515
NM_003227.4(TFR2):c.1768-10G>A rs1584456254
NM_003227.4(TFR2):c.1768-10G>C rs1584456254
NM_003227.4(TFR2):c.1768-14C>A
NM_003227.4(TFR2):c.1768-15A>G rs745441796
NM_003227.4(TFR2):c.1768-6T>C
NM_003227.4(TFR2):c.1768-8C>T rs1803299063
NM_003227.4(TFR2):c.1771G>C (p.Asp591His) rs1060502723
NM_003227.4(TFR2):c.1773C>T (p.Asp591=) rs2131312206
NM_003227.4(TFR2):c.1791G>A (p.Leu597=) rs2486117741
NM_003227.4(TFR2):c.1797A>G (p.Thr599=) rs2131312167
NM_003227.4(TFR2):c.17del (p.Gly6fs) rs1803700065
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) rs1803297757
NM_003227.4(TFR2):c.1812T>G (p.Tyr604Ter) rs147286030
NM_003227.4(TFR2):c.1818C>T (p.Asn606=) rs368761907
NM_003227.4(TFR2):c.1824T>C (p.His608=) rs1221947102
NM_003227.4(TFR2):c.1830G>A (p.Val610=) rs1243740555
NM_003227.4(TFR2):c.1833G>A (p.Leu611=) rs2131312099
NM_003227.4(TFR2):c.1839C>A (p.Gly613=) rs2486117625
NM_003227.4(TFR2):c.183_211del (p.Leu62fs) rs2486147588
NM_003227.4(TFR2):c.1841dup (p.Leu615fs) rs2486117611
NM_003227.4(TFR2):c.1845G>A (p.Leu615=) rs766491479
NM_003227.4(TFR2):c.1848C>G (p.Pro616=) rs1004353651
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.1860G>A (p.Gln620=)
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.1866G>C (p.Val622=) rs2486117505
NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) rs1246737417
NM_003227.4(TFR2):c.1878A>T (p.Ala626=) rs370288878
NM_003227.4(TFR2):c.1887C>G (p.Leu629=) rs2486117406
NM_003227.4(TFR2):c.188_189delinsTT (p.Gly63Val)
NM_003227.4(TFR2):c.1890C>T (p.Leu630=) rs753158589
NM_003227.4(TFR2):c.1894C>T (p.Arg632Trp) rs755561602
NM_003227.4(TFR2):c.189C>T (p.Gly63=)
NM_003227.4(TFR2):c.18T>C (p.Gly6=)
NM_003227.4(TFR2):c.18dup (p.Leu7fs) rs2486148789
NM_003227.4(TFR2):c.1905C>T (p.His635=) rs1254243525
NM_003227.4(TFR2):c.1910G>A (p.Arg637His)
NM_003227.4(TFR2):c.1914G>A (p.Leu638=) rs1803292204
NM_003227.4(TFR2):c.1915C>T (p.Leu639=) rs1562838108
NM_003227.4(TFR2):c.1920C>T (p.Pro640=) rs539909716
NM_003227.4(TFR2):c.1923C>G (p.Leu641=) rs760383272
NM_003227.4(TFR2):c.1923C>T (p.Leu641=) rs760383272
NM_003227.4(TFR2):c.192del (p.Arg65fs) rs2486147622
NM_003227.4(TFR2):c.1935C>T (p.Arg645=) rs2486117216
NM_003227.4(TFR2):c.1938C>A (p.Tyr646Ter) rs1324815806
NM_003227.4(TFR2):c.1938C>G (p.Tyr646Ter) rs1324815806
NM_003227.4(TFR2):c.1941G>C (p.Gly647=) rs111760099
NM_003227.4(TFR2):c.1942del (p.Asp648fs) rs2486117181
NM_003227.4(TFR2):c.1944C>T (p.Asp648=) rs1255780295
NM_003227.4(TFR2):c.1945GTC[1] (p.Val650del)
NM_003227.4(TFR2):c.1947C>T (p.Val649=) rs1320384421
NM_003227.4(TFR2):c.1950C>T (p.Val650=) rs2486117146
NM_003227.4(TFR2):c.1962C>T (p.Ile654=) rs2486117103
NM_003227.4(TFR2):c.1965G>A (p.Gly655=) rs1376031416
NM_003227.4(TFR2):c.1974C>T (p.Asn658=) rs1803289281
NM_003227.4(TFR2):c.1983T>C (p.Ser661=) rs2131311740
NM_003227.4(TFR2):c.1986G>A (p.Gly662=) rs748879574
NM_003227.4(TFR2):c.1986G>C (p.Gly662=) rs748879574
NM_003227.4(TFR2):c.1990C>T (p.Leu664Phe) rs1803288651
NM_003227.4(TFR2):c.1995+10G>A
NM_003227.4(TFR2):c.1995+12C>G rs2486116946
NM_003227.4(TFR2):c.1995+13C>A rs2486116941
NM_003227.4(TFR2):c.1995+13C>T rs2486116941
NM_003227.4(TFR2):c.1995+15C>T rs1803288144
NM_003227.4(TFR2):c.1995+18C>A rs1391240383
NM_003227.4(TFR2):c.1995+18C>T rs1391240383
NM_003227.4(TFR2):c.1995+20C>G
NM_003227.4(TFR2):c.1995+20C>T
NM_003227.4(TFR2):c.1995+7G>A rs2486116970
NM_003227.4(TFR2):c.201G>A (p.Arg67=) rs1338232824
NM_003227.4(TFR2):c.207A>G (p.Pro69=) rs2486147595
NM_003227.4(TFR2):c.2137-10C>G rs2486102919
NM_003227.4(TFR2):c.2137-10C>T rs2486102919
NM_003227.4(TFR2):c.2137-12C>A rs571430574
NM_003227.4(TFR2):c.2137-12C>G rs571430574
NM_003227.4(TFR2):c.2137-12C>T rs571430574
NM_003227.4(TFR2):c.2137-12CT[2] rs1803099346
NM_003227.4(TFR2):c.2137-13C>T rs2486102939
NM_003227.4(TFR2):c.2137-16C>A rs1191398149
NM_003227.4(TFR2):c.2137-5C>G rs374964799
NM_003227.4(TFR2):c.2137-7T>C rs2486102910
NM_003227.4(TFR2):c.2148C>T (p.Tyr716=) rs1249770771
NM_003227.4(TFR2):c.2162del (p.Tyr721fs) rs2131304244
NM_003227.4(TFR2):c.2166G>A (p.Val722=) rs1242357910
NM_003227.4(TFR2):c.2169G>C (p.Ser723=) rs776336894
NM_003227.4(TFR2):c.2178C>T (p.Asp726=) rs1397856341
NM_003227.4(TFR2):c.2181C>G (p.Ser727=) rs1456739161
NM_003227.4(TFR2):c.2183dup (p.Phe729fs) rs1803096138
NM_003227.4(TFR2):c.2184G>C (p.Pro728=) rs982999802
NM_003227.4(TFR2):c.2184G>T (p.Pro728=) rs982999802
NM_003227.4(TFR2):c.2190C>G (p.Arg730=) rs1803095460
NM_003227.4(TFR2):c.2193C>T (p.His731=) rs1803095211
NM_003227.4(TFR2):c.2199C>T (p.Phe733=) rs2486102678
NM_003227.4(TFR2):c.219C>T (p.Pro73=) rs1803688731
NM_003227.4(TFR2):c.2217C>T (p.His739=) rs2486102652
NM_003227.4(TFR2):c.2220G>A (p.Thr740=) rs974022495
NM_003227.4(TFR2):c.2220G>C (p.Thr740=) rs974022495
NM_003227.4(TFR2):c.2221C>G (p.Leu741Val)
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) rs1463281712
NM_003227.4(TFR2):c.2232G>C (p.Leu744=) rs1386744933
NM_003227.4(TFR2):c.2236dup (p.Asp746fs) rs777027788
NM_003227.4(TFR2):c.2241C>T (p.His747=) rs763782433
NM_003227.4(TFR2):c.2242C>T (p.Leu748=) rs760427749
NM_003227.4(TFR2):c.2245C>A (p.Arg749=) rs987041183
NM_003227.4(TFR2):c.2256C>G (p.Arg752=) rs963087261
NM_003227.4(TFR2):c.2256C>T (p.Arg752=) rs963087261
NM_003227.4(TFR2):c.225G>T (p.Ala75=) rs148140889
NM_003227.4(TFR2):c.2271G>A (p.Gly757=) rs1387410683
NM_003227.4(TFR2):c.2274C>G (p.Thr758=) rs777761117
NM_003227.4(TFR2):c.2280G>A (p.Gly760=) rs1193611482
NM_003227.4(TFR2):c.2280G>C (p.Gly760=) rs1193611482
NM_003227.4(TFR2):c.2281dup (p.Ala761fs) rs2486102360
NM_003227.4(TFR2):c.2292C>A (p.Ser764=) rs2486102332
NM_003227.4(TFR2):c.2292C>T (p.Ser764=) rs2486102332
NM_003227.4(TFR2):c.2301C>T (p.Phe767=) rs2131303994
NM_003227.4(TFR2):c.2321_2323del (p.Arg774del)
NM_003227.4(TFR2):c.2331C>T (p.Ala777=) rs2131303942
NM_003227.4(TFR2):c.2332C>T (p.Leu778=) rs2486102202
NM_003227.4(TFR2):c.2334G>A (p.Leu778=) rs2486102193
NM_003227.4(TFR2):c.2337C>G (p.Leu779=) rs2486102175
NM_003227.4(TFR2):c.2340C>G (p.Thr780=) rs748289130
NM_003227.4(TFR2):c.2346G>T (p.Thr782=) rs367723987
NM_003227.4(TFR2):c.2379T>C (p.Asp793=) rs2486102031
NM_003227.4(TFR2):c.2394T>C (p.Asp798=) rs1803082293
NM_003227.4(TFR2):c.249C>G (p.Pro83=) rs2131327736
NM_003227.4(TFR2):c.249C>T (p.Pro83=) rs2131327736
NM_003227.4(TFR2):c.24C>T (p.Phe8=) rs751672078
NM_003227.4(TFR2):c.252C>A (p.Tyr84Ter) rs776441721
NM_003227.4(TFR2):c.253C>T (p.Leu85=) rs2131327726
NM_003227.4(TFR2):c.253del (p.Leu85fs) rs1426704853
NM_003227.4(TFR2):c.255G>T (p.Leu85=) rs2131327723
NM_003227.4(TFR2):c.258C>T (p.Val86=) rs2486147466
NM_003227.4(TFR2):c.267C>T (p.Ala89=) rs1363160491
NM_003227.4(TFR2):c.268C>T (p.Leu90=)
NM_003227.4(TFR2):c.270G>A (p.Leu90=) rs1584464593
NM_003227.4(TFR2):c.273G>C (p.Leu91=) rs1584464589
NM_003227.4(TFR2):c.283G>A (p.Gly95Arg)
NM_003227.4(TFR2):c.286+11T>A
NM_003227.4(TFR2):c.286+11T>C rs1281853114
NM_003227.4(TFR2):c.286+12C>A rs1212921182
NM_003227.4(TFR2):c.286+16C>G rs751298741
NM_003227.4(TFR2):c.286+16C>T rs751298741
NM_003227.4(TFR2):c.286+18C>T rs1312006597
NM_003227.4(TFR2):c.286+1G>T rs756989018
NM_003227.4(TFR2):c.286+2T>C rs1562845204
NM_003227.4(TFR2):c.287-12G>A
NM_003227.4(TFR2):c.287-2A>T rs774862156
NM_003227.4(TFR2):c.287-4C>T rs1803685000
NM_003227.4(TFR2):c.287-6dup rs1803685169
NM_003227.4(TFR2):c.2T>G (p.Met1Arg) rs2131328398
NM_003227.4(TFR2):c.309C>T (p.Ala103=) rs1803683295
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+10G>A rs2486148755
NM_003227.4(TFR2):c.33+11T>C rs1359296827
NM_003227.4(TFR2):c.33+14G>A rs2486148749
NM_003227.4(TFR2):c.33+17T>A rs760479718
NM_003227.4(TFR2):c.33+1del rs1803699632
NM_003227.4(TFR2):c.330G>C (p.Ala110=) rs542567285
NM_003227.4(TFR2):c.330G>T (p.Ala110=) rs542567285
NM_003227.4(TFR2):c.339C>T (p.Asp113=) rs2131327530
NM_003227.4(TFR2):c.34-10G>A rs748518852
NM_003227.4(TFR2):c.34-17C>T rs2486148030
NM_003227.4(TFR2):c.34-18C>T rs2486148035
NM_003227.4(TFR2):c.34-2A>G rs1803693127
NM_003227.4(TFR2):c.34-5C>T rs2131328012
NM_003227.4(TFR2):c.348G>A (p.Leu116=) rs2486147079
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) rs2131328001
NM_003227.4(TFR2):c.351G>A (p.Val117=) rs2131327509
NM_003227.4(TFR2):c.360G>A (p.Glu120=) rs2131327501
NM_003227.4(TFR2):c.369C>T (p.Asn123=) rs1438161376
NM_003227.4(TFR2):c.399C>G (p.Gly133=) rs1418842429
NM_003227.4(TFR2):c.401_402dup (p.Leu135fs) rs1388444100
NM_003227.4(TFR2):c.402A>G (p.Arg134=) rs2486146961
NM_003227.4(TFR2):c.405C>T (p.Leu135=) rs2131327461
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) rs868823304
NM_003227.4(TFR2):c.407A>C (p.Tyr136Ser) rs1391879497
NM_003227.4(TFR2):c.42G>A (p.Leu14=) rs1803692894
NM_003227.4(TFR2):c.42G>T (p.Leu14=) rs1803692894
NM_003227.4(TFR2):c.433C>T (p.Leu145=) rs1584464423
NM_003227.4(TFR2):c.444G>A (p.Leu148=) rs2486146805
NM_003227.4(TFR2):c.444G>C (p.Leu148=) rs2486146805
NM_003227.4(TFR2):c.447G>C (p.Gly149=) rs41302366
NM_003227.4(TFR2):c.458_473+6del rs2486146751
NM_003227.4(TFR2):c.465C>T (p.Asp155=) rs1803679185
NM_003227.4(TFR2):c.471C>T (p.Ile157=) rs2131327393
NM_003227.4(TFR2):c.473+14T>A rs1434947775
NM_003227.4(TFR2):c.473+14T>C rs1434947775
NM_003227.4(TFR2):c.473+17C>A rs1803678569
NM_003227.4(TFR2):c.473+18C>G rs2486146716
NM_003227.4(TFR2):c.473+19C>T rs778823912
NM_003227.4(TFR2):c.474-10C>T rs2486135303
NM_003227.4(TFR2):c.474-1G>A rs2131320942
NM_003227.4(TFR2):c.474-35_474-6del rs745347320
NM_003227.4(TFR2):c.474-4T>G rs754506665
NM_003227.4(TFR2):c.47_48del (p.Pro16fs)
NM_003227.4(TFR2):c.484del (p.Leu162fs) rs2131320933
NM_003227.4(TFR2):c.486T>C (p.Leu162=) rs1167945529
NM_003227.4(TFR2):c.495G>A (p.Arg165=) rs2131320904
NM_003227.4(TFR2):c.49A>G (p.Arg17Gly)
NM_003227.4(TFR2):c.501A>C (p.Ala167=) rs1228050493
NM_003227.4(TFR2):c.504C>A (p.Gly168=) rs1458709458
NM_003227.4(TFR2):c.507G>C (p.Ser169=) rs1280667602
NM_003227.4(TFR2):c.519C>T (p.Ala173=) rs1043904278
NM_003227.4(TFR2):c.523_524del (p.Leu175fs) rs1803510959
NM_003227.4(TFR2):c.529C>T (p.Gln177Ter) rs1034968542
NM_003227.4(TFR2):c.540C>T (p.Arg180=) rs2486135006
NM_003227.4(TFR2):c.54C>A (p.Ser18=) rs2486147931
NM_003227.4(TFR2):c.552C>G (p.Ser184=) rs1391229425
NM_003227.4(TFR2):c.552C>T (p.Ser184=) rs1391229425
NM_003227.4(TFR2):c.555C>G (p.Arg185=) rs769507636
NM_003227.4(TFR2):c.570C>A (p.His190Gln) rs1178849216
NM_003227.4(TFR2):c.585G>A (p.Thr195=) rs1197406517
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter) rs2486147926
NM_003227.4(TFR2):c.594G>T (p.Val198=) rs2486134875
NM_003227.4(TFR2):c.597G>A (p.Gly199=) rs2486134863
NM_003227.4(TFR2):c.600G>A (p.Leu200=) rs2131320756
NM_003227.4(TFR2):c.600G>C (p.Leu200=) rs2131320756
NM_003227.4(TFR2):c.606C>T (p.Phe202=) rs2131320749
NM_003227.4(TFR2):c.609G>A (p.Pro203=) rs1803508613
NM_003227.4(TFR2):c.60G>A (p.Gln20=) rs2131327980
NM_003227.4(TFR2):c.614+1G>C rs1584460907
NM_003227.4(TFR2):c.615-4C>G rs2131320575
NM_003227.4(TFR2):c.615-4C>T rs2131320575
NM_003227.4(TFR2):c.615-6C>T rs1426595023
NM_003227.4(TFR2):c.636C>A (p.His212Gln)
NM_003227.4(TFR2):c.63C>A (p.Thr21=) rs1189743234
NM_003227.4(TFR2):c.63_66del (p.Val22fs) rs2486147898
NM_003227.4(TFR2):c.63del (p.Val22fs) rs2131327975
NM_003227.4(TFR2):c.651C>A (p.Ala217=) rs2486134380
NM_003227.4(TFR2):c.651C>T (p.Ala217=) rs2486134380
NM_003227.4(TFR2):c.654G>C (p.Gly218=)
NM_003227.4(TFR2):c.660C>A (p.Val220=) rs2131320508
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) rs763292953
NM_003227.4(TFR2):c.663A>C (p.Gly221=) rs2486134337
NM_003227.4(TFR2):c.664G>A (p.Glu222Lys)
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.66C>T (p.Val22=) rs1196004706
NM_003227.4(TFR2):c.672G>A (p.Leu224=) rs1392663925
NM_003227.4(TFR2):c.681G>A (p.Glu227=) rs2486134256
NM_003227.4(TFR2):c.684C>T (p.Asp228=) rs2486134243
NM_003227.4(TFR2):c.689_690del (p.Asp230fs) rs2486134236
NM_003227.4(TFR2):c.696C>T (p.Tyr232=) rs1803501914
NM_003227.4(TFR2):c.714C>T (p.Ile238=) rs34242818
NM_003227.4(TFR2):c.717C>A (p.Gly239=) rs2486134136
NM_003227.4(TFR2):c.726+10C>T rs1803500633
NM_003227.4(TFR2):c.726+12C>T rs1803500473
NM_003227.4(TFR2):c.726+8C>A rs1803500754
NM_003227.4(TFR2):c.726+8C>T rs1803500754
NM_003227.4(TFR2):c.726+9C>A rs372020405
NM_003227.4(TFR2):c.727-10G>A rs1157089802
NM_003227.4(TFR2):c.727-10G>T rs1157089802
NM_003227.4(TFR2):c.727-11C>G rs779112569
NM_003227.4(TFR2):c.727-13C>A rs2486133864
NM_003227.4(TFR2):c.727-20C>T rs1803497460
NM_003227.4(TFR2):c.727-2A>G rs2486133812
NM_003227.4(TFR2):c.727-5C>G rs2486133827
NM_003227.4(TFR2):c.727-5C>T rs2486133827
NM_003227.4(TFR2):c.729A>G (p.Gly243=) rs1803496924
NM_003227.4(TFR2):c.733C>T (p.Leu245=) rs2131320244
NM_003227.4(TFR2):c.735G>A (p.Leu245=) rs2131320240
NM_003227.4(TFR2):c.738G>A (p.Val246=) rs2131320234
NM_003227.4(TFR2):c.73del (p.Arg25fs) rs2486147879
NM_003227.4(TFR2):c.745del (p.His249fs) rs2131320223
NM_003227.4(TFR2):c.750del (p.His249_Tyr250insTer) rs2486133707
NM_003227.4(TFR2):c.753G>A (p.Gly251=) rs2486133688
NM_003227.4(TFR2):c.753_756del (p.Arg252fs) rs2486133665
NM_003227.4(TFR2):c.756G>A (p.Arg252=) rs2486133662
NM_003227.4(TFR2):c.759C>A (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.759C>G (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.759C>T (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.75T>A (p.Arg25=) rs2131327950
NM_003227.4(TFR2):c.75T>C (p.Arg25=) rs2131327950
NM_003227.4(TFR2):c.768G>A (p.Leu256=) rs761605882
NM_003227.4(TFR2):c.771G>A (p.Gln257=) rs2486133620
NM_003227.4(TFR2):c.774C>T (p.Asp258=) rs776828897
NM_003227.4(TFR2):c.778C>A (p.Arg260=) rs1803495311
NM_003227.4(TFR2):c.780G>C (p.Arg260=) rs2131320143
NM_003227.4(TFR2):c.783C>G (p.Ala261=) rs769094432
NM_003227.4(TFR2):c.786G>A (p.Arg262=) rs1399765515
NM_003227.4(TFR2):c.789C>G (p.Gly263=) rs2131320107
NM_003227.4(TFR2):c.7C>A (p.Arg3=) rs778169466
NM_003227.4(TFR2):c.804C>T (p.Gly268=) rs1584460530
NM_003227.4(TFR2):c.807C>T (p.Arg269=) rs1584460525
NM_003227.4(TFR2):c.808C>T (p.Leu270=)
NM_003227.4(TFR2):c.819G>A (p.Val273=) rs2131320050
NM_003227.4(TFR2):c.822C>T (p.Arg274=) rs1262970273
NM_003227.4(TFR2):c.825G>T (p.Val275=) rs780798756
NM_003227.4(TFR2):c.829dup (p.Val277fs) rs2486131876
NM_003227.4(TFR2):c.840C>T (p.Phe280=) rs151198873
NM_003227.4(TFR2):c.843C>T (p.Ala281=) rs2486131799
NM_003227.4(TFR2):c.846G>A (p.Gln282=) rs2486131792
NM_003227.4(TFR2):c.849+10C>T rs2486131776
NM_003227.4(TFR2):c.849+12T>G rs2486131767
NM_003227.4(TFR2):c.849+1G>T rs1389208146
NM_003227.4(TFR2):c.849+2T>C rs2131320006
NM_003227.4(TFR2):c.849+8T>C rs2486131779
NM_003227.4(TFR2):c.850-14A>G rs1584459807
NM_003227.4(TFR2):c.850-8C>T rs756805892
NM_003227.4(TFR2):c.855C>G (p.Thr285=) rs1584459777
NM_003227.4(TFR2):c.855C>T (p.Thr285=) rs1584459777
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) rs1398396879
NM_003227.4(TFR2):c.867del (p.Phe290fs) rs2486129782
NM_003227.4(TFR2):c.870C>T (p.Phe290=) rs1803458966
NM_003227.4(TFR2):c.876T>C (p.Ala292=) rs2486129753
NM_003227.4(TFR2):c.885G>A (p.Val295=) rs899276990
NM_003227.4(TFR2):c.887T>C (p.Leu296Pro)
NM_003227.4(TFR2):c.88C>A (p.Arg30=) rs758433785
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.897A>T (p.Pro299=) rs2131318766
NM_003227.4(TFR2):c.909C>T (p.Asp303=) rs763080314
NM_003227.4(TFR2):c.912C>T (p.Phe304=) rs2486129659
NM_003227.4(TFR2):c.939G>C (p.Leu313=) rs1210760430
NM_003227.4(TFR2):c.942C>A (p.Ser314=) rs143627613
NM_003227.4(TFR2):c.951G>A (p.Gln317=) rs371045856
NM_003227.4(TFR2):c.954A>G (p.Ala318=) rs1158763486
NM_003227.4(TFR2):c.957G>A (p.Val319=) rs1803454342
NM_003227.4(TFR2):c.960T>C (p.Tyr320=) rs1584459683
NM_003227.4(TFR2):c.960T>G (p.Tyr320Ter) rs1584459683
NM_003227.4(TFR2):c.966+11G>A rs777201281
NM_003227.4(TFR2):c.966+13A>T rs2486129483
NM_003227.4(TFR2):c.966+15del rs2486129478
NM_003227.4(TFR2):c.966+20T>C rs534173191
NM_003227.4(TFR2):c.966+2_966+3del rs2131318647
NM_003227.4(TFR2):c.966+7C>G rs2486129490
NM_003227.4(TFR2):c.966+7C>T rs2486129490
NM_003227.4(TFR2):c.967-4G>A rs2131318431
NM_003227.4(TFR2):c.981T>C (p.Thr327=) rs2486129104
NM_003227.4(TFR2):c.984A>G (p.Gly328=) rs372774524
NM_003227.4(TFR2):c.990del (p.Tyr331fs) rs1414730937

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