ClinVar Miner

List of variants in gene TMEM127 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NM_017849.3(TMEM127):c.*1178A>G rs748572058
NM_017849.3(TMEM127):c.*1197T>C rs886056442
NM_017849.3(TMEM127):c.*1252C>G rs886056441
NM_017849.3(TMEM127):c.*1620C>T rs886056440
NM_017849.3(TMEM127):c.*1638G>C rs753339060
NM_017849.3(TMEM127):c.*1819C>A rs551671260
NM_017849.3(TMEM127):c.*1849T>G rs867431947
NM_017849.3(TMEM127):c.*1883_*1886dupTCTG rs886056439
NM_017849.3(TMEM127):c.*2121G>T rs778493549
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.*2445G>T rs886056436
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.*2760A>C rs886056431
NM_017849.3(TMEM127):c.*2845T>G rs182729595
NM_017849.3(TMEM127):c.*3025G>C rs886056430
NM_017849.3(TMEM127):c.*3348G>C rs886056429
NM_017849.3(TMEM127):c.*3560G>T rs886056428
NM_017849.3(TMEM127):c.*3568C>G rs886056427
NM_017849.3(TMEM127):c.*662G>A rs886056445
NM_017849.3(TMEM127):c.*760dupA rs371530522
NM_017849.3(TMEM127):c.*883C>G rs886056443
NM_017849.3(TMEM127):c.-131-7C>T rs886056450
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.100G>A (p.Ala34Thr) rs1553437740
NM_017849.3(TMEM127):c.101C>A (p.Ala34Asp)
NM_017849.3(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
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.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.166A>G (p.Ile56Val) rs751779219
NM_017849.3(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.3(TMEM127):c.187C>T (p.Arg63Cys)
NM_017849.3(TMEM127):c.188G>A (p.Arg63His)
NM_017849.3(TMEM127):c.19G>A (p.Ala7Thr) rs1390402715
NM_017849.3(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
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.228C>A (p.His76Gln) rs1060500599
NM_017849.3(TMEM127):c.245-3C>T rs181429509
NM_017849.3(TMEM127):c.253A>G (p.Met85Val) rs771261665
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.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.299G>C (p.Cys100Ser) rs886056447
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys)
NM_017849.3(TMEM127):c.331T>C (p.Phe111Leu)
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.398A>G (p.His133Arg) rs587782203
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.407C>T (p.Thr136Met)
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
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.427G>A (p.Val143Ile) rs772153618
NM_017849.3(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
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.519C>A (p.Phe173Leu) rs758676810
NM_017849.3(TMEM127):c.520G>A (p.Ala174Thr)
NM_017849.3(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786
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.56G>T (p.Gly19Val) rs1331019402
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.64G>A (p.Ala22Thr)
NM_017849.3(TMEM127):c.654G>A (p.Glu218=) rs776822044
NM_017849.3(TMEM127):c.665C>T (p.Ala222Val) rs373951977
NM_017849.3(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.3(TMEM127):c.671A>G (p.Tyr224Cys) rs1060500598
NM_017849.3(TMEM127):c.67C>A (p.Leu23Met) rs749807415
NM_017849.3(TMEM127):c.712C>A (p.Pro238Thr)
NM_017849.3(TMEM127):c.71C>G (p.Pro24Arg) rs1231130879
NM_017849.3(TMEM127):c.80C>T (p.Pro27Leu) rs983504110
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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