ClinVar Miner

List of variants studied for Pyruvate dehydrogenase complex deficiency by Illumina Laboratory Services, Illumina

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Total variants: 79
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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_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NC_000003.12:g.58427626_58427627del rs35161513 0.06029
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_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000925.4(PDHB):c.*199T>G rs886058777 0.00001
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-271G>T rs780153979

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