ClinVar Miner

List of variants in gene TMEM127 reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736 0.00003
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.288C>G (p.Ile96Met) rs758726687 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met) rs759138897 0.00003
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro) rs772714957 0.00003
NM_017849.4(TMEM127):c.494A>G (p.His165Arg) rs752030320 0.00003
NM_017849.4(TMEM127):c.253A>G (p.Met85Val) rs771261665 0.00002
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.410-7C>T rs375440877 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017849.4(TMEM127):c.620C>T (p.Ala207Val) rs751044006 0.00002
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr) rs780992481 0.00002
NM_017849.4(TMEM127):c.130C>T (p.Leu44=) rs754493061 0.00001
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.143T>C (p.Leu48Pro) rs1219876266 0.00001
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu) rs1573977765 0.00001
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser) rs767257269 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.169C>T (p.His57Tyr) rs1294717128 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.192G>C (p.Gln64His) rs1684389208 0.00001
NM_017849.4(TMEM127):c.197T>C (p.Leu66Pro) rs1249787183 0.00001
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro) rs1424733983 0.00001
NM_017849.4(TMEM127):c.211G>A (p.Val71Met) rs142947571 0.00001
NM_017849.4(TMEM127):c.229C>T (p.Pro77Ser) rs1390685113 0.00001
NM_017849.4(TMEM127):c.230C>T (p.Pro77Leu) rs368949257 0.00001
NM_017849.4(TMEM127):c.250T>G (p.Cys84Gly) rs1369345321 0.00001
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala) rs761101636 0.00001
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser) rs886056447 0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=) rs754465684 0.00001
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro) rs766918841 0.00001
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro) rs761032675 0.00001
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr) rs767739392 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291 0.00001
NM_017849.4(TMEM127):c.380G>A (p.Arg127His) rs777665433 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.410-5C>T rs1356874783 0.00001
NM_017849.4(TMEM127):c.419G>T (p.Cys140Phe) rs121908828 0.00001
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro) rs936034324 0.00001
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro) rs964860224 0.00001
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg) rs745947594 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.520G>A (p.Ala174Thr) rs753594901 0.00001
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile) rs149034651 0.00001
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro) rs764012422 0.00001
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val) rs762657413 0.00001
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys) rs140860906 0.00001
NM_017849.4(TMEM127):c.590G>A (p.Arg197His) rs1231066976 0.00001
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr) rs756818796 0.00001
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu) rs1239484250 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His) rs1684141729 0.00001
NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu) rs144326855 0.00001
NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr) rs1184921725 0.00001
NM_017849.4(TMEM127):c.136A>C (p.Thr46Pro)
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser) rs144659242
NM_017849.4(TMEM127):c.137C>G (p.Thr46Ser) rs1327376770
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp) rs1022275292
NM_017849.4(TMEM127):c.140C>G (p.Ala47Gly)
NM_017849.4(TMEM127):c.140C>T (p.Ala47Val)
NM_017849.4(TMEM127):c.143T>A (p.Leu48His)
NM_017849.4(TMEM127):c.145G>C (p.Ala49Pro)
NM_017849.4(TMEM127):c.148G>A (p.Glu50Lys) rs1437924634
NM_017849.4(TMEM127):c.152C>G (p.Pro51Arg) rs1573977765
NM_017849.4(TMEM127):c.154G>A (p.Ala52Thr) rs767257269
NM_017849.4(TMEM127):c.159G>T (p.Trp53Cys)
NM_017849.4(TMEM127):c.161T>G (p.Leu54Trp)
NM_017849.4(TMEM127):c.165C>A (p.His55Gln)
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn) rs1177862234
NM_017849.4(TMEM127):c.167T>C (p.Ile56Thr)
NM_017849.4(TMEM127):c.170A>G (p.His57Arg)
NM_017849.4(TMEM127):c.179C>A (p.Thr60Asn) rs1171618626
NM_017849.4(TMEM127):c.181T>C (p.Cys61Arg)
NM_017849.4(TMEM127):c.182G>A (p.Cys61Tyr) rs886056448
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.4(TMEM127):c.187C>G (p.Arg63Gly)
NM_017849.4(TMEM127):c.187C>T (p.Arg63Cys) rs1558756534
NM_017849.4(TMEM127):c.188G>A (p.Arg63His) rs1187661049
NM_017849.4(TMEM127):c.188G>T (p.Arg63Leu) rs1187661049
NM_017849.4(TMEM127):c.194A>G (p.Glu65Gly)
NM_017849.4(TMEM127):c.200G>A (p.Gly67Glu)
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val) rs1573977675
NM_017849.4(TMEM127):c.202G>A (p.Val68Ile)
NM_017849.4(TMEM127):c.206C>T (p.Ser69Phe)
NM_017849.4(TMEM127):c.211G>T (p.Val71Leu)
NM_017849.4(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
NM_017849.4(TMEM127):c.214T>A (p.Leu72Met)
NM_017849.4(TMEM127):c.218G>A (p.Gly73Asp)
NM_017849.4(TMEM127):c.223G>A (p.Val75Met) rs2104307262
NM_017849.4(TMEM127):c.226C>T (p.His76Tyr)
NM_017849.4(TMEM127):c.233A>G (p.Asp78Gly)
NM_017849.4(TMEM127):c.233A>T (p.Asp78Val)
NM_017849.4(TMEM127):c.236T>G (p.Leu79Arg)
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val) rs1436382974
NM_017849.4(TMEM127):c.244+3G>C rs1472610237
NM_017849.4(TMEM127):c.245-1443C>T
NM_017849.4(TMEM127):c.245-1567del
NM_017849.4(TMEM127):c.245-4A>C
NM_017849.4(TMEM127):c.245-5T>G
NM_017849.4(TMEM127):c.245A>T (p.Asp82Val)
NM_017849.4(TMEM127):c.254T>G (p.Met85Arg)
NM_017849.4(TMEM127):c.257A>G (p.Asn86Ser)
NM_017849.4(TMEM127):c.260C>G (p.Pro87Arg)
NM_017849.4(TMEM127):c.266C>G (p.Thr89Arg) rs876658430
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_017849.4(TMEM127):c.271C>A (p.Leu91Met) rs1684174363
NM_017849.4(TMEM127):c.274C>T (p.Leu92Phe)
NM_017849.4(TMEM127):c.278T>C (p.Leu93Pro)
NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)
NM_017849.4(TMEM127):c.281G>C (p.Arg94Pro)
NM_017849.4(TMEM127):c.286A>C (p.Ile96Leu)
NM_017849.4(TMEM127):c.286A>G (p.Ile96Val)
NM_017849.4(TMEM127):c.290C>T (p.Ala97Val)
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro) rs369144563
NM_017849.4(TMEM127):c.298T>A (p.Cys100Ser) rs1573970265
NM_017849.4(TMEM127):c.298_303dup (p.Phe101_Leu102insCysPhe)
NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg)
NM_017849.4(TMEM127):c.308G>A (p.Gly103Asp) rs1313510506
NM_017849.4(TMEM127):c.314T>G (p.Leu105Arg) rs766918841
NM_017849.4(TMEM127):c.317G>A (p.Cys106Tyr)
NM_017849.4(TMEM127):c.317G>T (p.Cys106Phe)
NM_017849.4(TMEM127):c.321T>G (p.Ser107Arg) rs1553437007
NM_017849.4(TMEM127):c.323T>C (p.Leu108Pro) rs1553437004
NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser)
NM_017849.4(TMEM127):c.334C>T (p.Leu112Phe)
NM_017849.4(TMEM127):c.335T>A (p.Leu112His)
NM_017849.4(TMEM127):c.335T>G (p.Leu112Arg) rs1684170958
NM_017849.4(TMEM127):c.343G>A (p.Val115Ile) rs930453941
NM_017849.4(TMEM127):c.348T>A (p.Phe116Leu)
NM_017849.4(TMEM127):c.353C>A (p.Pro118Gln)
NM_017849.4(TMEM127):c.356A>G (p.Lys119Arg)
NM_017849.4(TMEM127):c.357G>C (p.Lys119Asn)
NM_017849.4(TMEM127):c.359A>G (p.His120Arg) rs745385741
NM_017849.4(TMEM127):c.364G>A (p.Ala122Thr) rs1553436990
NM_017849.4(TMEM127):c.370A>G (p.Lys124Glu)
NM_017849.4(TMEM127):c.371A>G (p.Lys124Arg) rs377430566
NM_017849.4(TMEM127):c.375C>G (p.Ile125Met)
NM_017849.4(TMEM127):c.376A>G (p.Thr126Ala)
NM_017849.4(TMEM127):c.380G>C (p.Arg127Pro)
NM_017849.4(TMEM127):c.382C>T (p.Arg128Cys) rs759261535
NM_017849.4(TMEM127):c.388G>A (p.Ala130Thr)
NM_017849.4(TMEM127):c.389C>T (p.Ala130Val)
NM_017849.4(TMEM127):c.395C>T (p.Ala132Val) rs1573970073
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn) rs1573970063
NM_017849.4(TMEM127):c.403C>A (p.Leu135Ile) rs751854293
NM_017849.4(TMEM127):c.410-111C>T
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.424A>G (p.Thr142Ala)
NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn)
NM_017849.4(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.4(TMEM127):c.431T>C (p.Ile144Thr) rs1036821113
NM_017849.4(TMEM127):c.434G>C (p.Gly145Ala)
NM_017849.4(TMEM127):c.440_442del (p.Ser147del)
NM_017849.4(TMEM127):c.448G>C (p.Ala150Pro)
NM_017849.4(TMEM127):c.449C>A (p.Ala150Asp)
NM_017849.4(TMEM127):c.449C>T (p.Ala150Val)
NM_017849.4(TMEM127):c.451T>G (p.Ser151Ala)
NM_017849.4(TMEM127):c.470A>C (p.Gln157Pro)
NM_017849.4(TMEM127):c.471G>T (p.Gln157His) rs2104285097
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.4(TMEM127):c.482A>G (p.His161Arg) rs778839133
NM_017849.4(TMEM127):c.484A>C (p.Lys162Gln)
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.4(TMEM127):c.490T>G (p.Tyr164Asp)
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg) rs372120755
NM_017849.4(TMEM127):c.500C>A (p.Ser167Tyr)
NM_017849.4(TMEM127):c.500C>G (p.Ser167Cys)
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe) rs994504317
NM_017849.4(TMEM127):c.505G>A (p.Val169Ile)
NM_017849.4(TMEM127):c.509A>G (p.Tyr170Cys)
NM_017849.4(TMEM127):c.515C>T (p.Thr172Ile)
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys) rs1684149438
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu) rs758676810
NM_017849.4(TMEM127):c.520G>C (p.Ala174Pro)
NM_017849.4(TMEM127):c.523G>T (p.Val175Phe) rs149034651
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.527G>C (p.Ser176Thr)
NM_017849.4(TMEM127):c.527G>T (p.Ser176Ile) rs2104284475
NM_017849.4(TMEM127):c.529T>G (p.Phe177Val)
NM_017849.4(TMEM127):c.538G>T (p.Val180Leu) rs767100341
NM_017849.4(TMEM127):c.539T>C (p.Val180Ala)
NM_017849.4(TMEM127):c.544G>A (p.Gly182Arg)
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.547G>T (p.Ala183Ser)
NM_017849.4(TMEM127):c.548C>G (p.Ala183Gly)
NM_017849.4(TMEM127):c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr)
NM_017849.4(TMEM127):c.550G>C (p.Gly184Arg) rs1060500597
NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)
NM_017849.4(TMEM127):c.556G>A (p.Ala186Thr)
NM_017849.4(TMEM127):c.556G>T (p.Ala186Ser)
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu) rs1684147520
NM_017849.4(TMEM127):c.563T>C (p.Ile188Thr)
NM_017849.4(TMEM127):c.565C>G (p.Leu189Val) rs146965678
NM_017849.4(TMEM127):c.566T>C (p.Leu189Pro)
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.569C>G (p.Ala190Gly) rs2104284000
NM_017849.4(TMEM127):c.569C>T (p.Ala190Val)
NM_017849.4(TMEM127):c.582C>T (p.Asn194=) rs2104283819
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro) rs1573969123
NM_017849.4(TMEM127):c.594C>G (p.His198Gln)
NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe) rs1573969106
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser) rs200351681
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala) rs1684144587
NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.4(TMEM127):c.608A>C (p.Glu203Ala)
NM_017849.4(TMEM127):c.610G>A (p.Glu204Lys)
NM_017849.4(TMEM127):c.613G>A (p.Glu205Lys)
NM_017849.4(TMEM127):c.613G>T (p.Glu205Ter)
NM_017849.4(TMEM127):c.616C>A (p.Gln206Lys)
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val) rs1285100095
NM_017849.4(TMEM127):c.631C>T (p.Leu211Phe)
NM_017849.4(TMEM127):c.634T>A (p.Ser212Thr)
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
NM_017849.4(TMEM127):c.638A>T (p.Glu213Val)
NM_017849.4(TMEM127):c.642G>A (p.Met214Ile)
NM_017849.4(TMEM127):c.643G>A (p.Glu215Lys)
NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly) rs1573968995
NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys) rs746291260
NM_017849.4(TMEM127):c.655C>T (p.Pro219Ser)
NM_017849.4(TMEM127):c.656C>A (p.Pro219His) rs1684141855
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg) rs1684141855
NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys) rs2104283046
NM_017849.4(TMEM127):c.665C>G (p.Ala222Gly)
NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.4(TMEM127):c.673G>A (p.Glu225Lys)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp) rs779189359
NM_017849.4(TMEM127):c.676G>C (p.Val226Leu)
NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)
NM_017849.4(TMEM127):c.678C>A (p.Val226=)
NM_017849.4(TMEM127):c.683A>G (p.Asn228Ser)
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu) rs1684140585
NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)
NM_017849.4(TMEM127):c.698C>G (p.Pro233Arg)
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala) rs780992481
NM_017849.4(TMEM127):c.700C>T (p.Pro234Ser)
NM_017849.4(TMEM127):c.713C>T (p.Pro238Leu)

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