ClinVar Miner

List of variants in gene ETHE1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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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.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014297.5(ETHE1):c.112T>G (p.Tyr38Asp) rs1442758927 0.00001
NC_000019.9:g.(44015719_44030352)_(44031409_?)dup
NM_014297.5(ETHE1):c.394A>G (p.Ser132Gly) rs1291692198
NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)

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