ClinVar Miner

List of variants in gene ETFDH reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
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.1344A>G (p.Leu448=) rs765652548 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 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.1303T>C (p.Tyr435His) rs1057519158
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.1571T>C (p.Leu524Pro) rs1580423483
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) rs2126316486
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.1818T>C (p.Pro606=)
NM_004453.4(ETFDH):c.241C>T (p.Leu81Phe) rs1403179258
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.740G>T (p.Gly247Val)

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