ClinVar Miner

List of variants in gene TMEM127 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.*2291_*2292del rs566328757 0.00091
NM_017849.4(TMEM127):c.573G>A (p.Thr191=) rs147816248 0.00028
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.267A>G (p.Thr89=) rs773384410 0.00002
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718 0.00002
NM_017849.4(TMEM127):c.435C>G (p.Gly145=) rs761795793 0.00001
NM_017849.4(TMEM127):c.*547G>A
NM_017849.4(TMEM127):c.*760dup rs371530522
NM_017849.4(TMEM127):c.131T>C (p.Leu44Pro)
NM_017849.4(TMEM127):c.212T>C (p.Val71Ala)
NM_017849.4(TMEM127):c.278_288del (p.Leu93fs)
NM_017849.4(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)

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