ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase complex deficiency

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122

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