ClinVar Miner

List of variants reported for Ethylmalonic encephalopathy by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
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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