ClinVar Miner

List of variants in gene ETHE1 reported by Baylor Genetics

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Total variants: 30
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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.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) rs368778231 0.00001
NM_014297.5(ETHE1):c.375+5G>A rs769259233 0.00001
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) rs756235299 0.00001
NM_014297.5(ETHE1):c.505+1G>A rs935855792 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014297.5(ETHE1):c.595+2T>G rs761661864 0.00001
NC_000019.9:g.(?_44015589)_(44015719_?)del
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter) rs863223955
NM_014297.5(ETHE1):c.227-1G>T
NM_014297.5(ETHE1):c.227-2A>C
NM_014297.5(ETHE1):c.312_319del (p.Leu105fs)
NM_014297.5(ETHE1):c.375+1G>T
NM_014297.5(ETHE1):c.376-2A>G
NM_014297.5(ETHE1):c.388del (p.Arg130fs)
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) rs2146021370
NM_014297.5(ETHE1):c.48_49dup (p.Gly17fs)
NM_014297.5(ETHE1):c.506-2A>G rs2145979349
NM_014297.5(ETHE1):c.542dup (p.Ile182fs)
NM_014297.5(ETHE1):c.586G>C (p.Asp196His)
NM_014297.5(ETHE1):c.596-1G>A
NM_014297.5(ETHE1):c.602_603del (p.Thr201fs) rs863223956
NM_014297.5(ETHE1):c.68del (p.Ile23fs)
NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys) rs749803238
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter) rs749803238
NM_014297.5(ETHE1):c.82-96_119del

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