ClinVar Miner

List of variants in gene DLAT studied for Inborn genetic diseases

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly) rs376141049 0.00014
NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro) rs1555181432 0.00001
NM_001931.5(DLAT):c.1045G>C (p.Ala349Pro)
NM_001931.5(DLAT):c.1208C>G (p.Ala403Gly)
NM_001931.5(DLAT):c.131G>T (p.Arg44Leu)
NM_001931.5(DLAT):c.1351G>C (p.Asp451His)
NM_001931.5(DLAT):c.1486T>G (p.Ser496Ala)
NM_001931.5(DLAT):c.1509A>G (p.Ile503Met) rs1421123060
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro) rs782260343
NM_001931.5(DLAT):c.268C>G (p.Pro90Ala)
NM_001931.5(DLAT):c.280G>C (p.Val94Leu)
NM_001931.5(DLAT):c.412G>A (p.Glu138Lys)
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.481G>A (p.Ala161Thr)
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
NM_001931.5(DLAT):c.658C>G (p.Gln220Glu)
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
NM_001931.5(DLAT):c.979G>T (p.Ala327Ser)

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