ClinVar Miner

List of variants in gene TMEM127 reported as pathogenic

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NC_000002.11:g.(?_96919546)_(96920745_?)del
NC_000002.11:g.(?_96930866)_(96931137_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)del
NM_017849.4(TMEM127):c.147_159del (p.Glu50fs)
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
NM_017849.4(TMEM127):c.193G>T (p.Glu65Ter)
NM_017849.4(TMEM127):c.202dup (p.Val68fs) rs1684388744
NM_017849.4(TMEM127):c.218del (p.Gly73fs) rs2104307293
NM_017849.4(TMEM127):c.224del (p.Val75fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.245-1G>A
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter)
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
NM_017849.4(TMEM127):c.278_288del (p.Leu93fs)
NM_017849.4(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.4(TMEM127):c.291del (p.Ala98fs) rs2104287651
NM_017849.4(TMEM127):c.325_326del (p.Ser109fs)
NM_017849.4(TMEM127):c.327del (p.Ala110fs)
NM_017849.4(TMEM127):c.328dup (p.Ala110fs)
NM_017849.4(TMEM127):c.332del (p.Phe111fs)
NM_017849.4(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.4(TMEM127):c.342_343insA (p.Val115fs)
NM_017849.4(TMEM127):c.347_348del (p.Phe116fs)
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter) rs1684169953
NM_017849.4(TMEM127):c.379del (p.Arg127fs)
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs) rs1684169157
NM_017849.4(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.4(TMEM127):c.409+1G>C rs121908825
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_017849.4(TMEM127):c.410-1G>C
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)
NM_017849.4(TMEM127):c.438_442del (p.Phe146fs)
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter) rs1573969322
NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)
NM_017849.4(TMEM127):c.530del (p.Phe177fs) rs1684148846
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs) rs1684147771

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