List of variants reported as uncertain significance for Ethylmalonic encephalopathy by Illumina Laboratory Services, Illumina

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.-45G>A	rs144136377	0.00621
NM_014297.5(ETHE1):c.*55G>T	rs201842186	0.00160
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	rs199827754	0.00031
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	rs138958351	0.00019
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)	rs370182416	0.00007
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)	rs773937760	0.00006
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val)	rs201260191	0.00005
NM_014297.5(ETHE1):c.*92A>C	rs930854445	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.505+5C>T	rs748284674	0.00002
NM_014297.4(ETHE1):c.-52G>C	rs886054481	0.00001
NM_014297.4(ETHE1):c.-58G>T	rs886054483	0.00001
NM_014297.5(ETHE1):c.*48G>A	rs777509773	0.00001
NM_014297.5(ETHE1):c.-47C>T	rs368890798	0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	rs533076307	0.00001
NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu)	rs753671768	0.00001
NM_014297.4(ETHE1):c.-53C>T	rs886054482
NM_014297.5(ETHE1):c.*31A>G	rs778362220
NM_014297.5(ETHE1):c.132G>T (p.Glu44Asp)	rs1358003763
NM_014297.5(ETHE1):c.138G>A (p.Arg46=)	rs1182285073
NM_014297.5(ETHE1):c.281T>C (p.Leu94Pro)	rs368170094
NM_014297.5(ETHE1):c.317G>C (p.Ser106Thr)	rs886054480
NM_014297.5(ETHE1):c.376-5G>C	rs886054479

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