ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E2 deficiency by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_001931.5(DLAT):c.1399-13_1399-11del rs587691611
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
NM_001931.5(DLAT):c.279+18dup

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