ClinVar Miner

List of variants in gene DLAT reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.381+22dup rs5794771

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