ClinVar Miner

List of variants reported as uncertain significance for Ethylmalonic encephalopathy

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Total variants: 81
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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.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.46C>T (p.Arg16Cys) rs761653656 0.00007
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.476G>A (p.Arg159His) rs768669208 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+5C>T rs748284674 0.00002
NC_000019.10:g.43527257G>A rs1031575408 0.00001
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.236A>G (p.His79Arg) rs778409766 0.00001
NM_014297.5(ETHE1):c.317G>A (p.Ser106Asn) rs886054480 0.00001
NM_014297.5(ETHE1):c.356C>T (p.Ser119Phe) rs772537157 0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014297.5(ETHE1):c.708G>T (p.Gln236His) rs1218439131 0.00001
NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu) rs753671768 0.00001
NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala) rs1971779762 0.00001
NC_000019.10:g.43527263_43527264delinsAA
NC_000019.9:g.(?_44011002)_(45213778_?)dup
NM_014297.4(ETHE1):c.-53C>T rs886054482
NM_014297.5(ETHE1):c.*31A>G rs778362220
NM_014297.5(ETHE1):c.11C>G (p.Ala4Gly) rs549901509
NM_014297.5(ETHE1):c.11C>T (p.Ala4Val)
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.149T>A (p.Leu50Gln) rs1309080740
NM_014297.5(ETHE1):c.178C>T (p.Arg60Trp) rs2146019729
NM_014297.5(ETHE1):c.205_210dup (p.Gly69_Leu70dup) rs2146019590
NM_014297.5(ETHE1):c.207_208delinsAT (p.Gly69_Leu70=)
NM_014297.5(ETHE1):c.215T>C (p.Leu72Pro)
NM_014297.5(ETHE1):c.226+6T>C rs2146019490
NM_014297.5(ETHE1):c.236A>T (p.His79Leu)
NM_014297.5(ETHE1):c.245C>A (p.Ala82Glu) rs748794074
NM_014297.5(ETHE1):c.247G>A (p.Asp83Asn) rs2146019088
NM_014297.5(ETHE1):c.278C>A (p.Ser93Tyr)
NM_014297.5(ETHE1):c.281T>C (p.Leu94Pro) rs368170094
NM_014297.5(ETHE1):c.289G>C (p.Gly97Arg)
NM_014297.5(ETHE1):c.299C>T (p.Ser100Phe) rs1972243964
NM_014297.5(ETHE1):c.317G>C (p.Ser106Thr) rs886054480
NM_014297.5(ETHE1):c.337C>T (p.His113Tyr) rs1167625576
NM_014297.5(ETHE1):c.343G>C (p.Glu115Gln)
NM_014297.5(ETHE1):c.376-5G>C rs886054479
NM_014297.5(ETHE1):c.377C>T (p.Ala126Val)
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.386C>A (p.Thr129Asn) rs2145985053
NM_014297.5(ETHE1):c.391G>A (p.Ala131Thr)
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp) rs1472850646
NM_014297.5(ETHE1):c.449C>A (p.Ala150Asp) rs1971915274
NM_014297.5(ETHE1):c.457G>C (p.Gly153Arg) rs2145984641
NM_014297.5(ETHE1):c.461A>T (p.Asp154Val)
NM_014297.5(ETHE1):c.493G>C (p.Asp165His)
NM_014297.5(ETHE1):c.495C>A (p.Asp165Glu)
NM_014297.5(ETHE1):c.49G>A (p.Gly17Ser) rs1468127110
NM_014297.5(ETHE1):c.505+4A>G rs1568493446
NM_014297.5(ETHE1):c.530C>T (p.Ser177Leu)
NM_014297.5(ETHE1):c.544A>G (p.Ile182Val)
NM_014297.5(ETHE1):c.551C>A (p.Thr184Lys)
NM_014297.5(ETHE1):c.580G>C (p.Ala194Pro)
NM_014297.5(ETHE1):c.587A>T (p.Asp196Val) rs1008232313
NM_014297.5(ETHE1):c.622G>A (p.Glu208Lys)
NM_014297.5(ETHE1):c.637C>T (p.Pro213Ser)
NM_014297.5(ETHE1):c.644T>G (p.Leu215Arg)
NM_014297.5(ETHE1):c.695C>T (p.Pro232Leu)
NM_014297.5(ETHE1):c.706C>T (p.Gln236Ter)
NM_014297.5(ETHE1):c.712+6C>A rs1568491262
NM_014297.5(ETHE1):c.734T>G (p.Met245Arg) rs777652898
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val) rs1366031091
NM_014297.5(ETHE1):c.81+4C>T
NM_014297.5(ETHE1):c.87C>G (p.Phe29Leu) rs1480478625

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