ClinVar Miner

List of variants in gene ETHE1 reported by GeneReviews

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.491C>A (p.Thr164Lys) rs1268640442 0.00003
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.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014297.5(ETHE1):c.113A>G (p.Tyr38Cys) rs1555765564
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.164T>C (p.Leu55Pro) rs182983506
NM_014297.5(ETHE1):c.222_223insA (p.Ala75fs) rs1555765528
NM_014297.5(ETHE1):c.230del (p.Asn77fs) rs1555765481
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter) rs1555765701
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala) rs1284200516
NM_014297.5(ETHE1):c.440_450del (p.His147fs) rs1555762753
NM_014297.5(ETHE1):c.455C>T (p.Thr152Ile) rs1317633085
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014297.5(ETHE1):c.487C>G (p.Arg163Gly) rs28940289
NM_014297.5(ETHE1):c.505+1G>T rs935855792
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014297.5(ETHE1):c.604dup (p.Val202fs) rs1555761934
NM_014297.5(ETHE1):c.66del (p.Ile23fs) rs1555765689

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