List of variants in gene ETHE1 reported as benign by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.712+181A>G	rs12985024	0.14035
NM_014297.5(ETHE1):c.505+264T>G	rs117069120	0.07395
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)	rs116440799	0.01995
NM_014297.5(ETHE1):c.712+88G>A	rs150923593	0.01545
NM_014297.5(ETHE1):c.227-9C>G	rs199921503	0.00367
NM_014297.5(ETHE1):c.*55G>T	rs201842186	0.00160
NM_014297.5(ETHE1):c.573C>T (p.Ile191=)	rs139119694	0.00006
NM_014297.5(ETHE1):c.378G>A (p.Ala126=)	rs138427304

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