ClinVar Miner

List of variants in gene ETFDH studied for not provided

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Gene type:
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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.831+224C>T rs4263349 0.99413
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_004453.4(ETFDH):c.973-104A>C rs7679753 0.34747
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_004453.4(ETFDH):c.1116+72T>C rs78126162 0.04300
NM_004453.4(ETFDH):c.1690+292C>A rs76559855 0.04234
NM_004453.4(ETFDH):c.1117-112A>G rs77408245 0.02379
NM_004453.4(ETFDH):c.176-237A>G rs62351198 0.01967
NM_004453.4(ETFDH):c.1116+141A>G rs6536360 0.01496
NM_004453.4(ETFDH):c.1286-258G>A rs76266747 0.01470
NM_004453.4(ETFDH):c.1117-232G>A rs73858521 0.01359
NM_004453.4(ETFDH):c.1117-284C>G rs73858520 0.01359
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_004453.4(ETFDH):c.34+146T>A rs112649720 0.01253
NM_004453.4(ETFDH):c.405+173G>A rs112942784 0.01238
NM_004453.4(ETFDH):c.606+121A>G rs77776406 0.01238
NM_004453.4(ETFDH):c.175+98T>C rs4546197 0.01235
NM_004453.4(ETFDH):c.34+266A>G rs78185171 0.01233
NM_004453.4(ETFDH):c.34+57C>A rs75443706 0.01163
NM_004453.4(ETFDH):c.685-203A>G rs146221617 0.00566
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004453.4(ETFDH):c.1286-154C>T rs139584691 0.00424
NM_004453.4(ETFDH):c.487+50G>A rs61708999 0.00372
NM_004453.4(ETFDH):c.831+294G>A rs149460428 0.00360
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.1812G>A (p.Val604=) rs17843967 0.00103
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
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.627T>C (p.Gly209=) rs148708761 0.00063
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.1449G>T (p.Pro483=) rs143873407 0.00025
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln) rs150105001 0.00023
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) rs772351035 0.00010
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_004453.4(ETFDH):c.973-8T>C rs371843463 0.00006
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) rs764164607 0.00005
NM_004453.4(ETFDH):c.831+4T>C rs752971257 0.00005
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) rs771456968 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.406-1G>A rs750189181 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 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.636A>T (p.Lys212Asn) rs758859840 0.00002
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala) rs398124154 0.00002
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00001
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1310A>G (p.Asp437Gly) rs1554033406 0.00001
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) rs763536356 0.00001
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=) rs765652548 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.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) rs768961719 0.00001
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) rs796051960 0.00001
NM_004453.4(ETFDH):c.1814T>C (p.Val605Ala) rs374395019 0.00001
NM_004453.4(ETFDH):c.186G>C (p.Met62Ile) rs1185220863 0.00001
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) rs376630579 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.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) rs1397900640 0.00001
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) rs1448673327 0.00001
NM_004453.4(ETFDH):c.768A>G (p.Leu256=) rs1481843055 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.1001T>G (p.Leu334Arg) rs377686388
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) rs796051959
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
NM_004453.4(ETFDH):c.1199C>T (p.Thr400Ile) rs778229438
NM_004453.4(ETFDH):c.1303T>C (p.Tyr435His) rs1057519158
NM_004453.4(ETFDH):c.1319A>G (p.Lys440Arg) rs140132054
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) rs2126314946
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1415G>T (p.Gly472Val)
NM_004453.4(ETFDH):c.1469-1G>T rs1561251640
NM_004453.4(ETFDH):c.1513A>G (p.Ile505Val) rs1774627740
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.1571T>C (p.Leu524Pro) rs1580423483
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) rs2126316486
NM_004453.4(ETFDH):c.1658A>G (p.Tyr553Cys) rs1561251884
NM_004453.4(ETFDH):c.1690+203del rs77764489
NM_004453.4(ETFDH):c.1690+203dup rs77764489
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.1691-250A>G rs11941800
NM_004453.4(ETFDH):c.1700A>C (p.Glu567Ala) rs2126320726
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
NM_004453.4(ETFDH):c.171G>A (p.Trp57Ter) rs949249162
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) rs760578708
NM_004453.4(ETFDH):c.175+1G>C rs796051961
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.175+206dup rs142393789
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.1815A>G (p.Val605=) rs1248188975
NM_004453.4(ETFDH):c.1818T>C (p.Pro606=)
NM_004453.4(ETFDH):c.1823del (p.Gly608fs) rs398124153
NM_004453.4(ETFDH):c.210TGT[1] (p.Val72del) rs796051966
NM_004453.4(ETFDH):c.241C>T (p.Leu81Phe) rs1403179258
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
NM_004453.4(ETFDH):c.324_330delinsTCCT (p.Gln108_Gly110delinsHisPro) rs1554031483
NM_004453.4(ETFDH):c.32T>C (p.Leu11Pro)
NM_004453.4(ETFDH):c.35-3C>A rs1554031296
NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro) rs121964956
NM_004453.4(ETFDH):c.383T>C (p.Phe128Ser) rs1554031490
NM_004453.4(ETFDH):c.405+118del rs373172859
NM_004453.4(ETFDH):c.405+118dup rs373172859
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.406-185del rs35572796
NM_004453.4(ETFDH):c.406-185dup rs35572796
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.485_487+14delinsT rs796051963
NM_004453.4(ETFDH):c.518T>C (p.Ile173Thr)
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>C (p.Arg175Pro) rs121964955
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.568C>A (p.Leu190Ile) rs796051957
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004453.4(ETFDH):c.607-12dup rs527944729
NM_004453.4(ETFDH):c.607-289G>A rs72969646
NM_004453.4(ETFDH):c.626G>A (p.Gly209Asp) rs2150308979
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.684+1G>T
NM_004453.4(ETFDH):c.684+265AAG[4] rs10672606
NM_004453.4(ETFDH):c.684+265AAG[5] rs10672606
NM_004453.4(ETFDH):c.684+266_684+267insAGAA rs144456156
NM_004453.4(ETFDH):c.739G>C (p.Gly247Arg) rs758218892
NM_004453.4(ETFDH):c.740G>T (p.Gly247Val)
NM_004453.4(ETFDH):c.829G>A (p.Glu277Lys) rs1554032712
NM_004453.4(ETFDH):c.832-15T>A rs1057522644
NM_004453.4(ETFDH):c.832-3del rs376153836
NM_004453.4(ETFDH):c.841A>T (p.Ile281Phe) rs761854400
NM_004453.4(ETFDH):c.886G>C (p.Gly296Arg)
NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys) rs796051958
NM_004453.4(ETFDH):c.986A>G (p.Tyr329Cys) rs1561247687

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