ClinVar Miner

Variants in gene ETFDH with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
770 56 0 55 24 0 23 96

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 48 6 0 0
likely pathogenic 48 0 19 0 0
uncertain significance 6 19 0 24 1
likely benign 0 0 24 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458 0.00017
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) rs747312700 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 0.00001
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) rs777655131 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) rs754082348 0.00001
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.1117-2A>G
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.488-1G>T rs2150306551
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004453.4(ETFDH):c.972+1del

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