ClinVar Miner

List of variants in gene ETFDH reported by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.684+2T>G rs1580406119

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