ClinVar Miner

Variants in gene ETHE1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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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.150G>C (p.Leu50=) rs142193567 0.00026
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014297.5(ETHE1):c.375+7T>C rs752466453 0.00007
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr) rs370182416 0.00007
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014297.5(ETHE1):c.376-5G>C rs886054479
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304

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