List of variants in gene ETHE1 reported 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
		ClinVar version:

Total variants: 17

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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.487C>T (p.Arg163Trp)	rs28940289	0.00004
NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg)	rs777252863	0.00003
NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)	rs770508697	0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile)	rs201846162	0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NM_014297.5(ETHE1):c.378G>A (p.Ala126=)	rs138427304
NM_014297.5(ETHE1):c.505+1G>T	rs935855792
NM_014297.5(ETHE1):c.604dup (p.Val202fs)	rs1555761934
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	rs1366031091

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