ClinVar Miner

List of variants in gene ETFDH reported as likely benign by GeneDx

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
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.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_004453.3(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.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.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.627T>C (p.Gly209=) rs148708761 0.00063
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265 0.00028
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) rs143873407 0.00025
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_004453.4(ETFDH):c.846T>C (p.Asp282=) rs371927583 0.00006
NM_004453.4(ETFDH):c.678A>G (p.Ala226=) rs372865586 0.00005
NM_004453.4(ETFDH):c.831+4T>C rs752971257 0.00005
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) rs182144074 0.00002
NM_004453.4(ETFDH):c.22C>G (p.Leu8Val) rs796051956 0.00001
NM_004453.4(ETFDH):c.34+7G>A rs1436016069 0.00001
NM_004453.4(ETFDH):c.-41CCT[1] rs765693695
NM_004453.4(ETFDH):c.1468+10A>G rs144205191
NM_004453.4(ETFDH):c.1690+203del rs77764489
NM_004453.4(ETFDH):c.1691-250A>G rs11941800
NM_004453.4(ETFDH):c.175+206dup rs142393789
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.38A>G (p.Tyr13Cys) rs746966542
NM_004453.4(ETFDH):c.405+118del rs373172859
NM_004453.4(ETFDH):c.405+118dup rs373172859
NM_004453.4(ETFDH):c.406-185dup rs35572796
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.684+265AAG[5] rs10672606
NM_004453.4(ETFDH):c.684+266_684+267insAGAA rs144456156
NM_004453.4(ETFDH):c.832-15T>A rs1057522644
NM_004453.4(ETFDH):c.832-3del rs376153836
NM_004453.4(ETFDH):c.860A>G (p.Lys287Arg) rs796051955
NM_004453.4(ETFDH):c.888T>C (p.Gly296=) rs1174948040

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