ClinVar Miner

List of variants in gene TMEM127 reported by Baylor Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
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.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913

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