ClinVar Miner

List of variants in gene TINF2 studied for Dyskeratosis congenita

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Gene type:
ClinVar version:
Total variants: 448
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001099274.3(TINF2):c.400-20_400-18dup rs58372573 0.06024
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03473
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311 0.00688
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00411
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001099274.3(TINF2):c.1129+15T>A rs200599508 0.00176
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001099274.3(TINF2):c.400-9C>T rs201087708 0.00128
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00029
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00019
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) rs776727691 0.00015
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844 0.00011
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 0.00009
NM_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00009
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631 0.00006
NM_001099274.3(TINF2):c.298-15C>T rs756494726 0.00006
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175 0.00005
NM_001099274.3(TINF2):c.597G>A (p.Leu199=) rs775927071 0.00005
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) rs767648367 0.00005
NM_001099274.3(TINF2):c.30A>G (p.Ala10=) rs779819186 0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val) rs562843857 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.605-17C>T rs371153453 0.00004
NM_001099274.3(TINF2):c.605-20G>A rs776808757 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001099274.3(TINF2):c.1221+3G>C rs762455414 0.00003
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu) rs745331482 0.00003
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083 0.00003
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=) rs755970077 0.00003
NM_001099274.3(TINF2):c.210C>T (p.Ile70=) rs749135301 0.00003
NM_001099274.3(TINF2):c.250A>C (p.Asn84His) rs370971769 0.00003
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr) rs762140055 0.00003
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) rs746625511 0.00003
NM_001099274.3(TINF2):c.297+13C>T rs199682439 0.00003
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00003
NM_001099274.3(TINF2):c.504G>A (p.Gln168=) rs764829839 0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=) rs757222975 0.00003
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) rs372610524 0.00003
NM_001099274.3(TINF2):c.690C>G (p.Pro230=) rs764260132 0.00003
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773 0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=) rs776136324 0.00003
NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys) rs992428548 0.00002
NM_001099274.3(TINF2):c.1062-3C>T rs1176026210 0.00002
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_001099274.3(TINF2):c.1130-10C>T rs762697610 0.00002
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg) rs1398882060 0.00002
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn) rs771022492 0.00002
NM_001099274.3(TINF2):c.1221+1G>C rs374008344 0.00002
NM_001099274.3(TINF2):c.1222-3C>A rs760553298 0.00002
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) rs1359891417 0.00002
NM_001099274.3(TINF2):c.399+12T>C rs1261166783 0.00002
NM_001099274.3(TINF2):c.411A>G (p.Gln137=) rs1180442127 0.00002
NM_001099274.3(TINF2):c.507+14A>G rs888526948 0.00002
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) rs540798467 0.00002
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser) rs1363732790 0.00002
NM_001099274.3(TINF2):c.984T>C (p.Ser328=) rs751773020 0.00002
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro) rs1166396726 0.00001
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=) rs1295609085 0.00001
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) rs1459244615 0.00001
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) rs368350757 0.00001
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) rs374740382 0.00001
NM_001099274.3(TINF2):c.1130-7C>T rs772815984 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=) rs948013496 0.00001
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744 0.00001
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=) rs751072503 0.00001
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His) rs962310042 0.00001
NM_001099274.3(TINF2):c.1222-5T>G rs763885098 0.00001
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909 0.00001
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser) rs1251109439 0.00001
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly) rs1364080800 0.00001
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) rs756840009 0.00001
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp) rs759420690 0.00001
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=) rs750447210 0.00001
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val) rs777060713 0.00001
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu) rs1184256281 0.00001
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=) rs1414894689 0.00001
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263 0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=) rs1374640214 0.00001
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238 0.00001
NM_001099274.3(TINF2):c.240G>A (p.Leu80=) rs145115622 0.00001
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser) rs1043122818 0.00001
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr) rs764402230 0.00001
NM_001099274.3(TINF2):c.298-10T>A rs1317116989 0.00001
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00001
NM_001099274.3(TINF2):c.333G>T (p.Gln111His) rs1469930490 0.00001
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr) rs776604725 0.00001
NM_001099274.3(TINF2):c.378G>A (p.Val126=) rs992608909 0.00001
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro) rs959871602 0.00001
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu) rs746984199 0.00001
NM_001099274.3(TINF2):c.414G>A (p.Glu138=) rs775467488 0.00001
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418 0.00001
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325 0.00001
NM_001099274.3(TINF2):c.495G>A (p.Pro165=) rs752106623 0.00001
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001099274.3(TINF2):c.508-10C>T rs1594553063 0.00001
NM_001099274.3(TINF2):c.508-19C>T rs750306834 0.00001
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg) rs1057093734 0.00001
NM_001099274.3(TINF2):c.555T>C (p.Ser185=) rs1002438747 0.00001
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe) rs772502368 0.00001
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu) rs775914928 0.00001
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) rs377436580 0.00001
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) rs746287594 0.00001
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe) rs754706260 0.00001
NM_001099274.3(TINF2):c.684C>T (p.His228=) rs370555134 0.00001
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser) rs376135750 0.00001
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu) rs1191953304 0.00001
NM_001099274.3(TINF2):c.716A>C (p.His239Pro) rs2040558735 0.00001
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) rs775202856 0.00001
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val) rs746642057 0.00001
NM_001099274.3(TINF2):c.759A>G (p.Leu253=) rs1456646494 0.00001
NM_001099274.3(TINF2):c.765C>A (p.Gly255=) rs1171794268 0.00001
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter) rs2040557117 0.00001
NM_001099274.3(TINF2):c.783C>A (p.Ala261=) rs1468911267 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln) rs200025766 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.837T>C (p.His279=) rs552145695 0.00001
NM_001099274.3(TINF2):c.867C>T (p.Pro289=) rs1426792982 0.00001
NM_001099274.3(TINF2):c.879C>T (p.Leu293=) rs1475173024 0.00001
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter) rs1232383398 0.00001
NM_001099274.3(TINF2):c.926A>T (p.His309Leu) rs771963817 0.00001
NM_001099274.3(TINF2):c.930G>A (p.Ala310=) rs778877023 0.00001
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) rs757221051 0.00001
NM_001099274.3(TINF2):c.960A>C (p.Thr320=) rs1002974518 0.00001
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro) rs755072937 0.00001
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter) rs903141690 0.00001
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr) rs750745512 0.00001
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu) rs760146341
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs) rs756029660
NM_001099274.3(TINF2):c.1011A>T (p.Gly337=)
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly) rs2502454386
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1023G>A (p.Lys341=)
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs) rs2502454193
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu) rs2502454076
NM_001099274.3(TINF2):c.1035T>C (p.Val345=) rs2502454035
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=) rs1372942831
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala) rs1167790409
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) rs2040546606
NM_001099274.3(TINF2):c.1061+14A>G rs1040503982
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1061+8_1061+9del rs759393085
NM_001099274.3(TINF2):c.1062-14_1062-11del rs2138996774
NM_001099274.3(TINF2):c.1062-15T>C rs2502452965
NM_001099274.3(TINF2):c.1062-18T>C rs2502452981
NM_001099274.3(TINF2):c.1062-19_1062-18del rs1413118602
NM_001099274.3(TINF2):c.1062-2A>G rs767141183
NM_001099274.3(TINF2):c.1062-4T>G rs769661599
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys) rs2040543151
NM_001099274.3(TINF2):c.1075del (p.Cys359fs) rs762161476
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) rs368350757
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys) rs2502452653
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) rs2040542787
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser) rs2502452533
NM_001099274.3(TINF2):c.1090C>A (p.Leu364Met)
NM_001099274.3(TINF2):c.1090C>T (p.Leu364=)
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) rs2138996481
NM_001099274.3(TINF2):c.1102T>C (p.Leu368=)
NM_001099274.3(TINF2):c.1107A>G (p.Leu369=)
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) rs2040541718
NM_001099274.3(TINF2):c.1122G>A (p.Arg374=)
NM_001099274.3(TINF2):c.1123_1129+1del rs1335513287
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) rs2138996390
NM_001099274.3(TINF2):c.1130-11C>T
NM_001099274.3(TINF2):c.1130-15G>A
NM_001099274.3(TINF2):c.1130-1G>T rs769640244
NM_001099274.3(TINF2):c.1130-3_1130-2del rs761173366
NM_001099274.3(TINF2):c.1130-4A>T rs2502451209
NM_001099274.3(TINF2):c.1150A>T (p.Ser384Cys)
NM_001099274.3(TINF2):c.1152C>T (p.Ser384=)
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp) rs2502450787
NM_001099274.3(TINF2):c.1164C>T (p.Thr388=)
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) rs192423622
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg) rs192423622
NM_001099274.3(TINF2):c.1177G>A (p.Val393Ile)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) rs2040535359
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del) rs2502450425
NM_001099274.3(TINF2):c.1197A>G (p.Glu399=)
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His) rs962310042
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu) rs765918306
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val) rs765918306
NM_001099274.3(TINF2):c.1221+11del rs772623109
NM_001099274.3(TINF2):c.1221+14A>C rs776525717
NM_001099274.3(TINF2):c.1221+15G>A
NM_001099274.3(TINF2):c.1221+5G>A
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-19C>G
NM_001099274.3(TINF2):c.1222-2A>G rs1205167406
NM_001099274.3(TINF2):c.1222-3C>T rs760553298
NM_001099274.3(TINF2):c.1222-4A>T rs2138994887
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) rs2040530178
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=) rs2040530178
NM_001099274.3(TINF2):c.1224dup (p.Ser409fs)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=) rs2502448874
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln) rs2502448815
NM_001099274.3(TINF2):c.1233A>G (p.Glu411=)
NM_001099274.3(TINF2):c.1238_1239del (p.Tyr413fs)
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu) rs2502448682
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr) rs1352189057
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) rs1346082542
NM_001099274.3(TINF2):c.1274T>G (p.Leu425Arg)
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=) rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=) rs769201516
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) rs780647966
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala) rs374776408
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1289C>G (p.Pro430Arg)
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) rs756840009
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His) rs753506686
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1293T>A (p.Pro431=)
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp) rs2502447920
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln) rs568909774
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly) rs369249473
NM_001099274.3(TINF2):c.1308C>T (p.Ala436=)
NM_001099274.3(TINF2):c.1325G>T (p.Cys442Phe)
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=) rs2502447629
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr) rs1455962316
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly) rs2138994183
NM_001099274.3(TINF2):c.1334G>A (p.Arg445Lys)
NM_001099274.3(TINF2):c.1335A>G (p.Arg445=)
NM_001099274.3(TINF2):c.1343C>G (p.Ser448Cys)
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe) rs757192833
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu) rs2502447310
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu) rs2502468781
NM_001099274.3(TINF2):c.17dup (p.Ala7fs) rs2502468769
NM_001099274.3(TINF2):c.193-7C>T rs201651916
NM_001099274.3(TINF2):c.199G>A (p.Val67Met) rs2040591219
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro) rs1329482510
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr) rs2502465901
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) rs2040599044
NM_001099274.3(TINF2):c.213G>A (p.Leu71=)
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu) rs2139003147
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg) rs2040590786
NM_001099274.3(TINF2):c.221G>A (p.Arg74Gln)
NM_001099274.3(TINF2):c.223C>T (p.Pro75Ser)
NM_001099274.3(TINF2):c.228G>A (p.Trp76Ter)
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val) rs1324581269
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg) rs2139003067
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro) rs2502465609
NM_001099274.3(TINF2):c.23G>T (p.Gly8Val)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=) rs145115622
NM_001099274.3(TINF2):c.252T>C (p.Asn84=)
NM_001099274.3(TINF2):c.254A>G (p.His85Arg)
NM_001099274.3(TINF2):c.257_258del (p.His86fs) rs2040589135
NM_001099274.3(TINF2):c.261T>C (p.Phe87=)
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) rs2139002944
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) rs2040588888
NM_001099274.3(TINF2):c.27C>G (p.Pro9=)
NM_001099274.3(TINF2):c.27C>T (p.Pro9=) rs754494652
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) rs754157164
NM_001099274.3(TINF2):c.294G>A (p.Lys98=) rs1594555123
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro) rs761179618
NM_001099274.3(TINF2):c.297+10C>T rs775877509
NM_001099274.3(TINF2):c.297+14G>A
NM_001099274.3(TINF2):c.297+18C>A rs759185643
NM_001099274.3(TINF2):c.297+18C>G rs759185643
NM_001099274.3(TINF2):c.297+1G>A rs2502465141
NM_001099274.3(TINF2):c.297+4A>G rs2502465125
NM_001099274.3(TINF2):c.297+5G>A rs2139002864
NM_001099274.3(TINF2):c.298-19T>C rs1231441517
NM_001099274.3(TINF2):c.307G>C (p.Asp103His) rs2502464442
NM_001099274.3(TINF2):c.315G>T (p.Arg105Ser)
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu) rs2040584780
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro) rs2502468502
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) rs2139002450
NM_001099274.3(TINF2):c.333G>A (p.Gln111=)
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln) rs2502464169
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs) rs2139002396
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys) rs1594554700
NM_001099274.3(TINF2):c.345C>T (p.Tyr115=)
NM_001099274.3(TINF2):c.363G>C (p.Leu121=)
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) rs2040583306
NM_001099274.3(TINF2):c.376G>A (p.Val126Met)
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys) rs2040598351
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val) rs2502463697
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp) rs746984199
NM_001099274.3(TINF2):c.390G>A (p.Ser130=)
NM_001099274.3(TINF2):c.393G>A (p.Lys131=) rs1373380506
NM_001099274.3(TINF2):c.394C>T (p.Leu132=) rs2040582728
NM_001099274.3(TINF2):c.399+8T>C
NM_001099274.3(TINF2):c.399+9G>C rs778901910
NM_001099274.3(TINF2):c.400-10C>T rs2139001198
NM_001099274.3(TINF2):c.400-11C>G rs2502461823
NM_001099274.3(TINF2):c.400-12C>T rs2502461831
NM_001099274.3(TINF2):c.400-17A>C rs1182153400
NM_001099274.3(TINF2):c.400-3T>C rs2040574912
NM_001099274.3(TINF2):c.400-4G>A rs1566368389
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.400-6C>T rs2502461807
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys) rs1429817346
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp) rs2502461667
NM_001099274.3(TINF2):c.425C>A (p.Pro142His)
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) rs770995315
NM_001099274.3(TINF2):c.426C>T (p.Pro142=)
NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr) rs2139001098
NM_001099274.3(TINF2):c.436G>A (p.Ala146Thr)
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro) rs1239281797
NM_001099274.3(TINF2):c.440T>C (p.Met147Thr)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=) rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=) rs2502461482
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser) rs2502461459
NM_001099274.3(TINF2):c.459G>A (p.Glu153=) rs2502461439
NM_001099274.3(TINF2):c.45C>G (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.466T>C (p.Cys156Arg)
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser) rs1328157149
NM_001099274.3(TINF2):c.48C>G (p.Ala16=)
NM_001099274.3(TINF2):c.490A>C (p.Thr164Pro)
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser) rs2139000919
NM_001099274.3(TINF2):c.494C>T (p.Pro165Leu)
NM_001099274.3(TINF2):c.507+12G>A rs2502460943
NM_001099274.3(TINF2):c.507+13del rs780404631
NM_001099274.3(TINF2):c.507+20T>C rs2502460893
NM_001099274.3(TINF2):c.507+6G>T rs142144996
NM_001099274.3(TINF2):c.508-15T>C rs2139000398
NM_001099274.3(TINF2):c.508-18C>T rs780585800
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.51G>T (p.Ala17=)
NM_001099274.3(TINF2):c.525T>C (p.Ser175=) rs1282591027
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu) rs755883773
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg) rs2502460020
NM_001099274.3(TINF2):c.534G>A (p.Gln178=)
NM_001099274.3(TINF2):c.540A>C (p.Gly180=)
NM_001099274.3(TINF2):c.54T>C (p.Ala18=)
NM_001099274.3(TINF2):c.552C>G (p.Thr184=)
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) rs2139000156
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe) rs774403117
NM_001099274.3(TINF2):c.564C>G (p.Ala188=) rs2502459782
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys) rs2502459757
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
NM_001099274.3(TINF2):c.582G>C (p.Val194=)
NM_001099274.3(TINF2):c.586A>G (p.Met196Val) rs2040566613
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile) rs1416935989
NM_001099274.3(TINF2):c.604+10A>G rs914423951
NM_001099274.3(TINF2):c.604+13T>C rs2502459342
NM_001099274.3(TINF2):c.604+15G>A rs2502459311
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln) rs2502459458
NM_001099274.3(TINF2):c.605-3C>T
NM_001099274.3(TINF2):c.605-4del rs753356501
NM_001099274.3(TINF2):c.606del (p.Glu202fs) rs2138999397
NM_001099274.3(TINF2):c.609C>T (p.Cys203=)
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) rs2138999303
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys) rs2040561581
NM_001099274.3(TINF2):c.631C>T (p.Leu211=) rs746287594
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) rs372610524
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp) rs763700245
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) rs2040560743
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu) rs777199016
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) rs747792016
NM_001099274.3(TINF2):c.678A>G (p.Ala226=)
NM_001099274.3(TINF2):c.681C>A (p.Leu227=)
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.6T>G (p.Ala2=)
NM_001099274.3(TINF2):c.702C>G (p.Ala234=)
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) rs2040559007
NM_001099274.3(TINF2):c.711C>T (p.Gly237=)
NM_001099274.3(TINF2):c.714A>T (p.Thr238=) rs2502457142
NM_001099274.3(TINF2):c.717T>G (p.His239Gln)
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) rs1594551965
NM_001099274.3(TINF2):c.728G>A (p.Gly243Glu)
NM_001099274.3(TINF2):c.741G>A (p.Arg247=)
NM_001099274.3(TINF2):c.743C>G (p.Thr248Arg)
NM_001099274.3(TINF2):c.747C>T (p.His249=) rs2040557774
NM_001099274.3(TINF2):c.749C>G (p.Pro250Arg)
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln) rs2502456823
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr) rs2502456684
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.789A>T (p.Leu263=) rs2040556107
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser) rs2040556025
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln) rs750385069
NM_001099274.3(TINF2):c.796C>T (p.Arg266Ter) rs1064795632
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser) rs1025235486
NM_001099274.3(TINF2):c.813A>G (p.Gln271=) rs1221913100
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter) rs2502456306
NM_001099274.3(TINF2):c.818C>A (p.Ala273Asp)
NM_001099274.3(TINF2):c.822C>T (p.Ser274=)
NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro) rs2138998293
NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser) rs2138998258
NM_001099274.3(TINF2):c.831A>G (p.Gly277=) rs2502456109
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln) rs121918543
NM_001099274.3(TINF2):c.843G>A (p.Glu281=)
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs) rs2502455869
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.864T>C (p.Phe288=) rs2138998003
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser) rs2502455630
NM_001099274.3(TINF2):c.885A>G (p.Ser295=) rs2502455536
NM_001099274.3(TINF2):c.891C>G (p.Thr297=) rs762334589
NM_001099274.3(TINF2):c.891C>T (p.Thr297=)
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) rs1050040349
NM_001099274.3(TINF2):c.897C>T (p.Val299=)
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met) rs1483280624
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn) rs2502455326
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.913A>G (p.Ser305Gly)
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn) rs746657282
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr) rs746657282
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.919del (p.Glu307fs) rs2040551370
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.927T>G (p.His309Gln) rs2502455143
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr) rs745711329
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val) rs2040550859
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser) rs1391029850
NM_001099274.3(TINF2):c.939A>G (p.Thr313=)
NM_001099274.3(TINF2):c.945C>T (p.Asp315=)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=) rs2502454926
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile) rs2502454859
NM_001099274.3(TINF2):c.962G>C (p.Arg321Thr)
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val) rs2502454779
NM_001099274.3(TINF2):c.972C>T (p.Ser324=)
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) rs1238940302
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg) rs766635773
NM_001099274.3(TINF2):c.995G>C (p.Cys332Ser)
NM_001099274.3(TINF2):c.9G>A (p.Thr3=) rs748683638
NM_001099274.3(TINF2):c.9G>C (p.Thr3=) rs748683638

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