ClinVar Miner

List of variants in gene DLAT reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter) rs781991355 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
NM_001931.5(DLAT):c.362_364del (p.Glu121del) rs2137679109
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)
NM_001931.5(DLAT):c.723dup (p.Val242fs)
NM_001931.5(DLAT):c.802del (p.Glu268fs)
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553

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