ClinVar Miner

List of variants in gene ETHE1 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe) rs199827754 0.00031
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val) rs201260191 0.00005
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) rs2146021370

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