ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) rs2126314946
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.210TGT[1] (p.Val72del) rs796051966
NM_004453.4(ETFDH):c.324_330delinsTCCT (p.Gln108_Gly110delinsHisPro) rs1554031483
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.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835

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