ClinVar Miner

List of variants in gene TMEM127 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
NM_017849.4(TMEM127):c.253A>G (p.Met85Val) rs771261665 0.00002
NM_017849.4(TMEM127):c.144C>T (p.Leu48=) rs1684391372
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser) rs200351681

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