ClinVar Miner

List of variants in gene TMEM127 reported by GeneDx

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_017849.3(TMEM127):c.-371A>G rs2301707 0.24593
NM_017849.4(TMEM127):c.245-158A>C rs72825877 0.14584
NM_017849.4(TMEM127):c.621G>A (p.Ala207=) rs3852673 0.13717
NM_017849.4(TMEM127):c.*50C>T rs72937654 0.00712
NM_017849.4(TMEM127):c.409+45G>C rs140817879 0.00545
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn) rs121908819 0.00073
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
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.324C>T (p.Leu108=) rs148381232 0.00007
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.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_017849.4(TMEM127):c.267A>G (p.Thr89=) rs773384410 0.00002
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro) rs1424733983 0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=) rs754465684 0.00001
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr) rs767739392 0.00001
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile) rs149034651 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.244+6G>T rs1573977546
NM_017849.4(TMEM127):c.245-258G>A rs62153029
NM_017849.4(TMEM127):c.251G>C (p.Cys84Ser)
NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln) rs775019246
NM_017849.4(TMEM127):c.276C>G (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.4(TMEM127):c.409+20A>G rs1553436966
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.4(TMEM127):c.607G>A (p.Glu203Lys) rs2104283542
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp) rs779189359

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