ClinVar Miner

List of variants in gene TMEM127 studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Total variants: 228
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HGVS dbSNP
NC_000002.12:g.(?_96253808)_(96265399_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)dup
NC_000002.12:g.(?_96265128)_(96265399_?)dup
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_001193304.3(TMEM127):c.398A>G (p.His133Arg) rs587782203
NM_017849.3(TMEM127):c.100G>A (p.Ala34Thr) rs1553437740
NM_017849.3(TMEM127):c.101C>A (p.Ala34Asp) rs1451389209
NM_017849.3(TMEM127):c.102C>T (p.Ala34=) rs781643869
NM_017849.3(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498
NM_017849.3(TMEM127):c.111C>T (p.Gly37=) rs1573977865
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.123C>G (p.Ile41Met) rs1573977845
NM_017849.3(TMEM127):c.124_125del (p.Thr42fs) rs1553437737
NM_017849.3(TMEM127):c.126G>A (p.Thr42=) rs1573977835
NM_017849.3(TMEM127):c.12C>T (p.Pro4=) rs1406470818
NM_017849.3(TMEM127):c.133T>A (p.Cys45Ser) rs995979769
NM_017849.3(TMEM127):c.136A>G (p.Thr46Ala) rs144659242
NM_017849.3(TMEM127):c.143T>C (p.Leu48Pro) rs1219876266
NM_017849.3(TMEM127):c.145G>A (p.Ala49Thr) rs577020327
NM_017849.3(TMEM127):c.154G>A (p.Ala52Thr) rs767257269
NM_017849.3(TMEM127):c.154G>T (p.Ala52Ser) rs767257269
NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.166A>G (p.Ile56Val) rs751779219
NM_017849.3(TMEM127):c.172G>A (p.Gly58Arg) rs764136807
NM_017849.3(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.3(TMEM127):c.187C>T (p.Arg63Cys) rs1558756534
NM_017849.3(TMEM127):c.188G>A (p.Arg63His) rs1187661049
NM_017849.3(TMEM127):c.188G>T (p.Arg63Leu) rs1187661049
NM_017849.3(TMEM127):c.197T>C (p.Leu66Pro) rs1249787183
NM_017849.3(TMEM127):c.19G>A (p.Ala7Thr) rs1390402715
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.3(TMEM127):c.211G>A (p.Val71Met) rs142947571
NM_017849.3(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
NM_017849.3(TMEM127):c.213G>A (p.Val71=) rs777169152
NM_017849.3(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736
NM_017849.3(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736
NM_017849.3(TMEM127):c.228C>A (p.His76Gln) rs1060500599
NM_017849.3(TMEM127):c.245-10C>G rs1573970399
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.245-3C>T rs181429509
NM_017849.3(TMEM127):c.245-6C>G rs1573970396
NM_017849.3(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.3(TMEM127):c.253A>G (p.Met85Val) rs771261665
NM_017849.3(TMEM127):c.265A>G (p.Thr89Ala) rs1573970344
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.267A>G (p.Thr89=) rs773384410
NM_017849.3(TMEM127):c.270G>T (p.Val90=) rs748896126
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.3(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.3(TMEM127):c.289G>A (p.Ala97Thr) rs752938517
NM_017849.3(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.3(TMEM127):c.298T>A (p.Cys100Ser) rs1573970265
NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017849.3(TMEM127):c.313C>T (p.Leu105=) rs754465684
NM_017849.3(TMEM127):c.314T>C (p.Leu105Pro) rs766918841
NM_017849.3(TMEM127):c.314T>G (p.Leu105Arg) rs766918841
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_017849.3(TMEM127):c.324C>T (p.Leu108=) rs148381232
NM_017849.3(TMEM127):c.330T>C (p.Ala110=) rs1157106593
NM_017849.3(TMEM127):c.331T>C (p.Phe111Leu) rs1558752478
NM_017849.3(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.3(TMEM127):c.343G>A (p.Val115Ile) rs930453941
NM_017849.3(TMEM127):c.353C>T (p.Pro118Leu) rs769359648
NM_017849.3(TMEM127):c.364G>A (p.Ala122Thr) rs1553436990
NM_017849.3(TMEM127):c.377C>T (p.Thr126Ile) rs775944671
NM_017849.3(TMEM127):c.379C>T (p.Arg127Cys) rs746883021
NM_017849.3(TMEM127):c.382C>T (p.Arg128Cys) rs759261535
NM_017849.3(TMEM127):c.384C>T (p.Arg128=) rs755188175
NM_017849.3(TMEM127):c.391T>A (p.Phe131Ile) rs1573970081
NM_017849.3(TMEM127):c.393C>T (p.Phe131=) rs756680897
NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) rs750870974
NM_017849.3(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.3(TMEM127):c.407C>T (p.Thr136Met) rs759138897
NM_017849.3(TMEM127):c.408G>A (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.411T>A (p.Val137=) rs760099422
NM_017849.3(TMEM127):c.413T>C (p.Leu138Pro) rs772714957
NM_017849.3(TMEM127):c.419G>T (p.Cys140Phe) rs121908828
NM_017849.3(TMEM127):c.426C>T (p.Thr142=) rs552787569
NM_017849.3(TMEM127):c.427G>A (p.Val143Ile) rs772153618
NM_017849.3(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.3(TMEM127):c.462C>G (p.Ile154Met) rs987656498
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter) rs780133289
NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.3(TMEM127):c.473A>G (p.Gln158Arg) rs1231103743
NM_017849.3(TMEM127):c.478C>T (p.Gln160Ter) rs1573969322
NM_017849.3(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.3(TMEM127):c.494A>G (p.His165Arg) rs752030320
NM_017849.3(TMEM127):c.496G>A (p.Gly166Arg) rs372120755
NM_017849.3(TMEM127):c.50G>T (p.Ser17Ile) rs1223613323
NM_017849.3(TMEM127):c.519C>A (p.Phe173Leu) rs758676810
NM_017849.3(TMEM127):c.519C>T (p.Phe173=) rs758676810
NM_017849.3(TMEM127):c.520G>A (p.Ala174Thr) rs753594901
NM_017849.3(TMEM127):c.522C>T (p.Ala174=) rs367951215
NM_017849.3(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.3(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786
NM_017849.3(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.3(TMEM127):c.534C>T (p.Tyr178=) rs550833832
NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) rs377740271
NM_017849.3(TMEM127):c.550G>C (p.Gly184Arg) rs1060500597
NM_017849.3(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.3(TMEM127):c.556G>C (p.Ala186Pro) rs764012422
NM_017849.3(TMEM127):c.562A>G (p.Ile188Val) rs762657413
NM_017849.3(TMEM127):c.565C>G (p.Leu189Val) rs146965678
NM_017849.3(TMEM127):c.565C>T (p.Leu189=) rs146965678
NM_017849.3(TMEM127):c.56G>T (p.Gly19Val) rs1331019402
NM_017849.3(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.3(TMEM127):c.572C>T (p.Thr191Met) rs200327514
NM_017849.3(TMEM127):c.573G>A (p.Thr191=) rs147816248
NM_017849.3(TMEM127):c.584T>G (p.Leu195Arg) rs1573969123
NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) rs140860906
NM_017849.3(TMEM127):c.590G>A (p.Arg197His) rs1231066976
NM_017849.3(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.3(TMEM127):c.598C>T (p.Pro200Ser) rs200351681
NM_017849.3(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.3(TMEM127):c.619G>A (p.Ala207Thr) rs756818796
NM_017849.3(TMEM127):c.620C>T (p.Ala207Val) rs751044006
NM_017849.3(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128
NM_017849.3(TMEM127):c.644A>G (p.Glu215Gly) rs1573968995
NM_017849.3(TMEM127):c.64G>A (p.Ala22Thr) rs1273425757
NM_017849.3(TMEM127):c.651C>T (p.Asn217=) rs759801591
NM_017849.3(TMEM127):c.652G>A (p.Glu218Lys) rs746291260
NM_017849.3(TMEM127):c.662C>T (p.Pro221Leu) rs144326855
NM_017849.3(TMEM127):c.663G>A (p.Pro221=) rs377760956
NM_017849.3(TMEM127):c.665C>T (p.Ala222Val) rs373951977
NM_017849.3(TMEM127):c.666G>A (p.Ala222=) rs772481029
NM_017849.3(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.3(TMEM127):c.669A>T (p.Glu223Asp) rs1431574710
NM_017849.3(TMEM127):c.671A>G (p.Tyr224Cys) rs1060500598
NM_017849.3(TMEM127):c.672T>C (p.Tyr224=) rs201935270
NM_017849.3(TMEM127):c.67C>A (p.Leu23Met) rs749807415
NM_017849.3(TMEM127):c.712C>A (p.Pro238Thr) rs1184921725
NM_017849.3(TMEM127):c.71C>G (p.Pro24Arg) rs1231130879
NM_017849.3(TMEM127):c.7del (p.Ala3fs) rs1558756727
NM_017849.3(TMEM127):c.80C>T (p.Pro27Leu) rs983504110
NM_017849.3(TMEM127):c.81G>A (p.Pro27=) rs1553437743
NM_017849.3(TMEM127):c.88A>G (p.Ser30Gly) rs763476625
NM_017849.3(TMEM127):c.8C>T (p.Ala3Val) rs1553437754
NM_017849.3(TMEM127):c.94G>T (p.Ala32Ser) rs770347064
NM_017849.3(TMEM127):c.95C>T (p.Ala32Val) rs1459156138
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
NM_017849.4(TMEM127):c.116T>C (p.Leu39Pro)
NM_017849.4(TMEM127):c.119C>T (p.Ser40Phe)
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu)
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser) rs144659242
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp)
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu) rs1573977765
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)
NM_017849.4(TMEM127):c.164A>C (p.His55Pro)
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn)
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val) rs1573977675
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala)
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val)
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala)
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_017849.4(TMEM127):c.281G>T (p.Arg94Leu)
NM_017849.4(TMEM127):c.28C>T (p.Pro10Ser)
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro)
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro) rs761032675
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe)
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)
NM_017849.4(TMEM127):c.33C>T (p.Gly11=) rs1268280072
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291
NM_017849.4(TMEM127):c.359A>G (p.His120Arg)
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
NM_017849.4(TMEM127):c.380G>A (p.Arg127His) rs777665433
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu)
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
NM_017849.4(TMEM127):c.39C>T (p.Arg13=) rs1060503975
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn) rs1573970063
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-6T>G rs765971817
NM_017849.4(TMEM127):c.410-7C>T rs375440877
NM_017849.4(TMEM127):c.412C>G (p.Leu138Val)
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro)
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro)
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.482A>G (p.His161Arg)
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg)
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe)
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys)
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile) rs149034651
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)
NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser)
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu)
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)
NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)
NM_017849.4(TMEM127):c.60C>T (p.Gly20=)
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val) rs1285100095
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.63C>G (p.Ser21Arg)
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)
NM_017849.4(TMEM127):c.67C>T (p.Leu23=) rs749807415
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)
NM_017849.4(TMEM127):c.693G>C (p.Gln231His)
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)

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