ClinVar Miner

List of variants in gene TMEM127 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP
NM_017849.3(TMEM127):c.*1163C>T rs11691019
NM_017849.3(TMEM127):c.*1178A>G rs748572058
NM_017849.3(TMEM127):c.*1197T>C rs886056442
NM_017849.3(TMEM127):c.*1233C>T rs536712285
NM_017849.3(TMEM127):c.*1252C>G rs886056441
NM_017849.3(TMEM127):c.*1301T>C rs3770239
NM_017849.3(TMEM127):c.*1306C>T rs148119945
NM_017849.3(TMEM127):c.*1406G>A rs534881507
NM_017849.3(TMEM127):c.*1620C>T rs886056440
NM_017849.3(TMEM127):c.*1638G>C rs753339060
NM_017849.3(TMEM127):c.*1723C>T rs551200730
NM_017849.3(TMEM127):c.*1772G>A rs537225254
NM_017849.3(TMEM127):c.*1784C>T rs571939749
NM_017849.3(TMEM127):c.*1819C>A rs551671260
NM_017849.3(TMEM127):c.*1819C>G rs551671260
NM_017849.3(TMEM127):c.*1849T>G rs867431947
NM_017849.3(TMEM127):c.*1883_*1886dupTCTG rs886056439
NM_017849.3(TMEM127):c.*1958A>C rs7058
NM_017849.3(TMEM127):c.*2012C>T rs149122699
NM_017849.3(TMEM127):c.*2086C>T rs13418193
NM_017849.3(TMEM127):c.*2101_*2103delTTT rs3832113
NM_017849.3(TMEM127):c.*2121G>T rs778493549
NM_017849.3(TMEM127):c.*2171C>T rs555968113
NM_017849.3(TMEM127):c.*2245A>G rs886056438
NM_017849.3(TMEM127):c.*2270dupT rs886056437
NM_017849.3(TMEM127):c.*2291_*2292delAA rs566328757
NM_017849.3(TMEM127):c.*2300G>A rs117655540
NM_017849.3(TMEM127):c.*2445G>T rs886056436
NM_017849.3(TMEM127):c.*2498C>T rs191565203
NM_017849.3(TMEM127):c.*249G>A rs886056446
NM_017849.3(TMEM127):c.*2503C>T rs886056435
NM_017849.3(TMEM127):c.*2548T>C rs886056434
NM_017849.3(TMEM127):c.*2642C>T rs886056433
NM_017849.3(TMEM127):c.*2717C>G rs886056432
NM_017849.3(TMEM127):c.*2719G>A rs140164805
NM_017849.3(TMEM127):c.*2760A>C rs886056431
NM_017849.3(TMEM127):c.*2845T>G rs182729595
NM_017849.3(TMEM127):c.*2888delT rs139762991
NM_017849.3(TMEM127):c.*2966C>G rs17119378
NM_017849.3(TMEM127):c.*3025G>C rs886056430
NM_017849.3(TMEM127):c.*3134C>T rs566067694
NM_017849.3(TMEM127):c.*3206_*3208delGTT rs141956691
NM_017849.3(TMEM127):c.*3209A>G rs186348610
NM_017849.3(TMEM127):c.*3348G>C rs886056429
NM_017849.3(TMEM127):c.*338G>A rs13022177
NM_017849.3(TMEM127):c.*3560G>T rs886056428
NM_017849.3(TMEM127):c.*3568C>G rs886056427
NM_017849.3(TMEM127):c.*3569C>T rs140274612
NM_017849.3(TMEM127):c.*502C>T rs191970829
NM_017849.3(TMEM127):c.*50C>T rs72937654
NM_017849.3(TMEM127):c.*57C>T rs147532087
NM_017849.3(TMEM127):c.*662G>A rs886056445
NM_017849.3(TMEM127):c.*674dupC rs201871634
NM_017849.3(TMEM127):c.*760delA rs371530522
NM_017849.3(TMEM127):c.*760dupA rs371530522
NM_017849.3(TMEM127):c.*883C>G rs886056443
NM_017849.3(TMEM127):c.*980G>A rs77989183
NM_017849.3(TMEM127):c.-131-7C>T rs886056450
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.-196C>T rs886056451
NM_017849.3(TMEM127):c.-220T>C rs886056452
NM_017849.3(TMEM127):c.-242G>A rs886056453
NM_017849.3(TMEM127):c.-37A>G rs886056449
NM_017849.3(TMEM127):c.-59C>T rs542087360
NM_017849.3(TMEM127):c.-87C>T rs527792197
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=)
NM_017849.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.123C>G (p.Ile41Met)
NM_017849.3(TMEM127):c.124_125del (p.Thr42fs) rs1553437737
NM_017849.3(TMEM127):c.126G>A (p.Thr42=)
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.149dup (p.Pro51fs) rs121908817
NM_017849.3(TMEM127):c.154G>A (p.Ala52Thr)
NM_017849.3(TMEM127):c.154G>T (p.Ala52Ser)
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)
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)
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)
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.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736
NM_017849.3(TMEM127):c.221A>G (p.Tyr74Cys)
NM_017849.3(TMEM127):c.228C>A (p.His76Gln) rs1060500599
NM_017849.3(TMEM127):c.245-10C>G
NM_017849.3(TMEM127):c.245-1G>C
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.245-3C>T rs181429509
NM_017849.3(TMEM127):c.245-6C>G
NM_017849.3(TMEM127):c.253A>G (p.Met85Val) rs771261665
NM_017849.3(TMEM127):c.265A>G (p.Thr89Ala)
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>A (p.Arg94=) rs121908824
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)
NM_017849.3(TMEM127):c.299G>C (p.Cys100Ser) rs886056447
NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017849.3(TMEM127):c.314T>C (p.Leu105Pro)
NM_017849.3(TMEM127):c.314T>G (p.Leu105Arg)
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys)
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)
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)
NM_017849.3(TMEM127):c.391T>A (p.Phe131Ile)
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.398A>G (p.His133Arg) rs587782203
NM_017849.3(TMEM127):c.39C>A (p.Arg13=) rs1060503975
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.3(TMEM127):c.407C>T (p.Thr136Met)
NM_017849.3(TMEM127):c.408G>A (p.Thr136=)
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.410-5C>T rs1356874783
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.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.419G>T (p.Cys140Phe) rs121908828
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.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.462C>G (p.Ile154Met)
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)
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.478C>T (p.Gln160Ter)
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)
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)
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.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)
NM_017849.3(TMEM127):c.562A>G (p.Ile188Val) rs762657413
NM_017849.3(TMEM127):c.565C>G (p.Leu189Val)
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.572C>T (p.Thr191Met) rs200327514
NM_017849.3(TMEM127):c.573G>A (p.Thr191=) rs147816248
NM_017849.3(TMEM127):c.584T>G (p.Leu195Arg)
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.600C>A (p.Pro200=) rs1060503974
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.621G>A (p.Ala207=) rs3852673
NM_017849.3(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.3(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128
NM_017849.3(TMEM127):c.644A>G (p.Glu215Gly)
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)
NM_017849.3(TMEM127):c.654G>A (p.Glu218=) rs776822044
NM_017849.3(TMEM127):c.662C>T (p.Pro221Leu)
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)
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.76C>T (p.Gln26Ter) rs121908815
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

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