ClinVar Miner

List of variants in gene ETFDH reported as benign

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Gene type:
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Total variants: 30
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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.606+1791G>A rs12644851 0.37958
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.1116+141A>G rs6536360 0.01496
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
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.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.1080A>G (p.Ala360=) rs150020458 0.00017
NM_004453.4(ETFDH):c.1690+203dup rs77764489
NM_004453.4(ETFDH):c.405+19del
NM_004453.4(ETFDH):c.405+19dup
NM_004453.4(ETFDH):c.406-185del rs35572796
NM_004453.4(ETFDH):c.607-12del
NM_004453.4(ETFDH):c.607-3del
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.684+12del
NM_004453.4(ETFDH):c.684+265AAG[4] rs10672606
NM_004453.4(ETFDH):c.685-4del
NM_004453.4(ETFDH):c.832-3dup rs376153836
NM_004453.4(ETFDH):c.832-4_832-3del

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