ClinVar Miner

List of variants reported as benign for pyruvate dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
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_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 0.01648
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
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.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
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_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_000108.5(DLD):c.1236+13A>G rs2701026 0.00341
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_000108.5(DLD):c.1464+11A>G rs184949878 0.00088
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000925.4(PDHB):c.204+9A>C rs202068841 0.00029
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180 0.00014
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000284.4(PDHA1):c.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000284.4(PDHA1):c.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.292-11C>T rs776535833 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.899+10T>C rs1471723235 0.00001
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_000108.5(DLD):c.1237-15_1237-14del
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.40-5del
NM_000108.5(DLD):c.439-7del
NM_000108.5(DLD):c.685-14del rs759170630
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
NM_000284.4(PDHA1):c.1009-18C>T
NM_000284.4(PDHA1):c.1009-31_1009-15del
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.58-18A>C
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
NM_000284.4(PDHA1):c.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
NM_000284.4(PDHA1):c.832-14C>T
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-8C>G
NM_000925.4(PDHB):c.700+9del
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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