ClinVar Miner

List of variants in gene TINF2 reported as uncertain significance for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00020
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) rs776727691 0.00014
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
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.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) rs540798467 0.00008
NM_001099274.3(TINF2):c.-277C>G rs886050435 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.318G>C (p.Lys106Asn) rs765992492 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.500C>T (p.Ala167Val) rs562843857 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001099274.3(TINF2):c.1221+1G>C rs374008344 0.00003
NM_001099274.3(TINF2):c.1221+3G>C rs762455414 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.640C>T (p.Pro214Ser) rs372610524 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.1222-3C>A rs760553298 0.00002
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) rs1359891417 0.00002
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00002
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) rs368350757 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744 0.00001
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909 0.00001
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) rs756840009 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.1337A>T (p.Asp446Val) rs532096263 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.364T>A (p.Ser122Thr) rs776604725 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.400G>A (p.Glu134Lys) rs1429817346 0.00001
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 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.716A>C (p.His239Pro) rs2040558735 0.00001
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) rs775202856 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.922G>T (p.Glu308Ter) rs1232383398 0.00001
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) rs757221051 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.*53G>A rs886050429
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) rs2040546606
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1062-15T>C
NM_001099274.3(TINF2):c.1062-18T>C
NM_001099274.3(TINF2):c.1062-2A>G
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) rs1459244615
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) rs368350757
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) rs2040542787
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
NM_001099274.3(TINF2):c.1090C>A (p.Leu364Met)
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) rs374740382
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) rs2138996481
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) rs2040541718
NM_001099274.3(TINF2):c.1123_1129+1del rs1335513287
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) rs2138996390
NM_001099274.3(TINF2):c.1130-1G>T rs769640244
NM_001099274.3(TINF2):c.1130-3_1130-2del rs761173366
NM_001099274.3(TINF2):c.1130-4A>T
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
NM_001099274.3(TINF2):c.1150A>T (p.Ser384Cys)
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) rs192423622
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
NM_001099274.3(TINF2):c.1177G>A (p.Val393Ile)
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
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+5G>A
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-2A>G rs1205167406
NM_001099274.3(TINF2):c.1222-3C>T rs760553298
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) rs2040530178
NM_001099274.3(TINF2):c.1224dup (p.Ser409fs)
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
NM_001099274.3(TINF2):c.1237_1240del (p.Tyr413fs)
NM_001099274.3(TINF2):c.1238_1239del (p.Tyr413fs)
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) rs1346082542
NM_001099274.3(TINF2):c.1274T>G (p.Leu425Arg)
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
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.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1289C>G (p.Pro430Arg)
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) rs756840009
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
NM_001099274.3(TINF2):c.1325G>T (p.Cys442Phe)
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.1338_1339del (p.Asp446fs)
NM_001099274.3(TINF2):c.1343C>G (p.Ser448Cys)
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
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)
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) rs2040599044
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.218G>A (p.Gly73Asp) rs1566369238
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)
NM_001099274.3(TINF2):c.23G>T (p.Gly8Val)
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
NM_001099274.3(TINF2):c.254A>G (p.His85Arg)
NM_001099274.3(TINF2):c.257_258del (p.His86fs) rs2040589135
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) rs2139002944
NM_001099274.3(TINF2):c.268T>G (p.Ser90Ala)
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) rs2040588888
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) rs754157164
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
NM_001099274.3(TINF2):c.297+1G>A
NM_001099274.3(TINF2):c.297+4A>G
NM_001099274.3(TINF2):c.297+5G>A rs2139002864
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
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)
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) rs2139002450
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
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.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)
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
NM_001099274.3(TINF2):c.400-3T>C rs2040574912
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
NM_001099274.3(TINF2):c.425C>A (p.Pro142His)
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) rs770995315
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)
NM_001099274.3(TINF2):c.440T>C (p.Met147Thr)
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
NM_001099274.3(TINF2):c.466T>C (p.Cys156Arg)
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
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.494_502del (p.Pro165_Ala167del) rs747496593
NM_001099274.3(TINF2):c.507+12G>A
NM_001099274.3(TINF2):c.507+6G>T rs142144996
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) rs2139000156
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
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.604G>C (p.Glu202Gln)
NM_001099274.3(TINF2):c.605-3C>T
NM_001099274.3(TINF2):c.606del (p.Glu202fs) rs2138999397
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg) rs2040562236
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) rs2138999303
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) rs372610524
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) rs2040560743
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) rs747792016
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) rs2040559007
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.743C>G (p.Thr248Arg)
NM_001099274.3(TINF2):c.749C>G (p.Pro250Arg)
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
NM_001099274.3(TINF2):c.796C>T (p.Arg266Ter) rs1064795632
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
NM_001099274.3(TINF2):c.818C>A (p.Ala273Asp)
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.838A>C (p.Lys280Gln)
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) rs1050040349
NM_001099274.3(TINF2):c.896T>G (p.Val299Gly) rs1050040349
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
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)
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)
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
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.954G>C (p.Met318Ile)
NM_001099274.3(TINF2):c.962G>C (p.Arg321Thr)
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
NM_001099274.3(TINF2):c.974C>T (p.Thr325Ile)
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) rs1238940302
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
NM_001099274.3(TINF2):c.995G>C (p.Cys332Ser)
NM_012461.3(TINF2):c.*259GT[2]
NM_012461.3(TINF2):c.-316G>A rs886050436

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.