ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase E1-beta deficiency

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ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000925.4(PDHB):c.97-5G>A rs200429396 0.00026
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786 0.00025
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_000925.4(PDHB):c.150T>C (p.Asp50=) rs367846961 0.00016
NM_000925.4(PDHB):c.935-12T>G rs200752186 0.00011
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641 0.00009
NM_000925.4(PDHB):c.477A>C (p.Ser159=) rs569429778 0.00007
NM_000925.4(PDHB):c.669T>C (p.Ile223=) rs573987651 0.00007
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_000925.4(PDHB):c.96+10G>A rs755528489 0.00004
NM_000925.4(PDHB):c.42+16C>T rs764495667 0.00003
NM_000925.4(PDHB):c.81G>A (p.Ala27=) rs745487481 0.00003
NM_000925.4(PDHB):c.96+14G>C rs774007894 0.00003
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=) rs755616546 0.00002
NM_000925.4(PDHB):c.1014A>G (p.Leu338=) rs1462611352 0.00002
NM_000925.4(PDHB):c.267+10C>A rs781736851 0.00002
NM_000925.4(PDHB):c.304-4dup rs1285910313 0.00002
NM_000925.4(PDHB):c.327A>G (p.Glu109=) rs370951271 0.00002
NM_000925.4(PDHB):c.33C>G (p.Pro11=) rs771813233 0.00002
NM_000925.4(PDHB):c.36T>C (p.Leu12=) rs981644233 0.00002
NM_000925.4(PDHB):c.390C>T (p.Thr130=) rs192604927 0.00002
NM_000925.4(PDHB):c.48C>T (p.Ser16=) rs375651141 0.00002
NM_000925.4(PDHB):c.52C>T (p.Leu18=) rs534688111 0.00002
NM_000925.4(PDHB):c.1005A>G (p.Ala335=) rs749945707 0.00001
NM_000925.4(PDHB):c.1047C>A (p.Ile349=) rs772087134 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.1080G>A (p.Ter360=) rs1323403685 0.00001
NM_000925.4(PDHB):c.15T>C (p.Ser5=) rs775907917 0.00001
NM_000925.4(PDHB):c.216G>A (p.Gly72=) rs150167131 0.00001
NM_000925.4(PDHB):c.231T>C (p.Tyr77=) rs1320317596 0.00001
NM_000925.4(PDHB):c.384C>G (p.Ala128=) rs1292480962 0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.492C>T (p.Ala164=) rs200016955 0.00001
NM_000925.4(PDHB):c.498T>C (p.Tyr166=) rs757249455 0.00001
NM_000925.4(PDHB):c.507C>T (p.Cys169=) rs143765288 0.00001
NM_000925.4(PDHB):c.747C>T (p.Cys249=) rs766540951 0.00001
NM_000925.4(PDHB):c.78C>T (p.Thr26=) rs552159384 0.00001
NM_000925.4(PDHB):c.84G>T (p.Pro28=) rs1458982933 0.00001
NM_000925.4(PDHB):c.897T>C (p.Phe299=) rs145795547 0.00001
NM_000925.4(PDHB):c.915C>A (p.Ile305=) rs140921216 0.00001
NM_000925.4(PDHB):c.942G>A (p.Ala314=) rs148770511 0.00001
NM_000925.4(PDHB):c.96+11C>T rs754446937 0.00001
NM_000925.4(PDHB):c.1008G>A (p.Lys336=) rs751210948
NM_000925.4(PDHB):c.1035G>A (p.Gln345=) rs987571203
NM_000925.4(PDHB):c.1053T>C (p.Phe351=)
NM_000925.4(PDHB):c.1065A>G (p.Lys355=)
NM_000925.4(PDHB):c.1068A>T (p.Thr356=)
NM_000925.4(PDHB):c.1074T>C (p.Asn358=)
NM_000925.4(PDHB):c.114T>C (p.Ala38=)
NM_000925.4(PDHB):c.135G>A (p.Glu45=)
NM_000925.4(PDHB):c.138G>A (p.Glu46=)
NM_000925.4(PDHB):c.141G>A (p.Leu47=)
NM_000925.4(PDHB):c.156G>A (p.Lys52=) rs2107941218
NM_000925.4(PDHB):c.15T>A (p.Ser5=) rs775907917
NM_000925.4(PDHB):c.15T>G (p.Ser5=)
NM_000925.4(PDHB):c.177A>G (p.Glu59=)
NM_000925.4(PDHB):c.183C>T (p.Ala61=) rs1263419219
NM_000925.4(PDHB):c.198A>C (p.Ala66=)
NM_000925.4(PDHB):c.201C>T (p.Tyr67=)
NM_000925.4(PDHB):c.204+10A>C
NM_000925.4(PDHB):c.204+10A>G
NM_000925.4(PDHB):c.204+14A>G
NM_000925.4(PDHB):c.204+15T>G
NM_000925.4(PDHB):c.204+17A>G
NM_000925.4(PDHB):c.204+9A>G
NM_000925.4(PDHB):c.205-14A>T
NM_000925.4(PDHB):c.205-16C>A
NM_000925.4(PDHB):c.205-4G>T rs2107941065
NM_000925.4(PDHB):c.205-6T>C
NM_000925.4(PDHB):c.205-8A>C rs2107941071
NM_000925.4(PDHB):c.205-8A>G
NM_000925.4(PDHB):c.205-9T>C rs1560188386
NM_000925.4(PDHB):c.237C>T (p.Asp79=)
NM_000925.4(PDHB):c.243G>A (p.Arg81=)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.24G>A (p.Val8=) rs776938446
NM_000925.4(PDHB):c.255T>C (p.Thr85=) rs2107940972
NM_000925.4(PDHB):c.261A>T (p.Ile87=)
NM_000925.4(PDHB):c.267+16G>A
NM_000925.4(PDHB):c.267+19A>G
NM_000925.4(PDHB):c.267+8T>A
NM_000925.4(PDHB):c.268-16A>G
NM_000925.4(PDHB):c.268-7T>C rs2107940828
NM_000925.4(PDHB):c.273C>T (p.Gly91=)
NM_000925.4(PDHB):c.27G>A (p.Arg9=)
NM_000925.4(PDHB):c.27G>C (p.Arg9=)
NM_000925.4(PDHB):c.27G>T (p.Arg9=) rs1576959597
NM_000925.4(PDHB):c.303+12T>A
NM_000925.4(PDHB):c.303+13C>G
NM_000925.4(PDHB):c.303+9T>C
NM_000925.4(PDHB):c.304-10G>T rs1349270970
NM_000925.4(PDHB):c.304-14T>A
NM_000925.4(PDHB):c.304-16G>A
NM_000925.4(PDHB):c.304-17C>T
NM_000925.4(PDHB):c.304-5T>C rs2107939861
NM_000925.4(PDHB):c.304-8T>C rs2107939867
NM_000925.4(PDHB):c.304-8dup rs781682337
NM_000925.4(PDHB):c.304-9A>C
NM_000925.4(PDHB):c.306T>C (p.Ala102=) rs2107939849
NM_000925.4(PDHB):c.309G>A (p.Gly103=) rs773743155
NM_000925.4(PDHB):c.309G>T (p.Gly103=)
NM_000925.4(PDHB):c.30A>G (p.Arg10=) rs2107943891
NM_000925.4(PDHB):c.315G>A (p.Arg105=)
NM_000925.4(PDHB):c.336C>T (p.Thr112=) rs2107939787
NM_000925.4(PDHB):c.339C>T (p.Phe113=)
NM_000925.4(PDHB):c.33C>T (p.Pro11=) rs771813233
NM_000925.4(PDHB):c.342T>C (p.Asn114=)
NM_000925.4(PDHB):c.375C>T (p.Asn125=)
NM_000925.4(PDHB):c.381T>C (p.Ala127=) rs2062913707
NM_000925.4(PDHB):c.390C>G (p.Thr130=)
NM_000925.4(PDHB):c.396C>T (p.Tyr132=) rs2107939689
NM_000925.4(PDHB):c.39G>A (p.Arg13=)
NM_000925.4(PDHB):c.39G>T (p.Arg13=)
NM_000925.4(PDHB):c.402T>G (p.Ser134=) rs2107939677
NM_000925.4(PDHB):c.408C>T (p.Gly136=)
NM_000925.4(PDHB):c.411T>C (p.Leu137=)
NM_000925.4(PDHB):c.42+11G>A
NM_000925.4(PDHB):c.42+14C>G
NM_000925.4(PDHB):c.42+14C>T
NM_000925.4(PDHB):c.42+18G>A
NM_000925.4(PDHB):c.42+19C>T
NM_000925.4(PDHB):c.42+20C>G
NM_000925.4(PDHB):c.42+7A>G rs2062944921
NM_000925.4(PDHB):c.42+9C>G rs755756637
NM_000925.4(PDHB):c.42+9C>T rs755756637
NM_000925.4(PDHB):c.43-11C>T
NM_000925.4(PDHB):c.43-7C>T
NM_000925.4(PDHB):c.438G>C (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.438G>T (p.Gly146=)
NM_000925.4(PDHB):c.441C>T (p.Pro147=)
NM_000925.4(PDHB):c.444T>C (p.Asn148=) rs2107939589
NM_000925.4(PDHB):c.450C>T (p.Ala150=) rs2107939582
NM_000925.4(PDHB):c.465T>C (p.Ala155=)
NM_000925.4(PDHB):c.474C>T (p.His158=)
NM_000925.4(PDHB):c.480G>A (p.Gln160=)
NM_000925.4(PDHB):c.483C>T (p.Cys161=)
NM_000925.4(PDHB):c.489T>C (p.Ala163=)
NM_000925.4(PDHB):c.519G>A (p.Lys173=)
NM_000925.4(PDHB):c.531C>T (p.Pro177=)
NM_000925.4(PDHB):c.549T>C (p.Ala183=) rs2107939461
NM_000925.4(PDHB):c.570C>T (p.Ala190=)
NM_000925.4(PDHB):c.573T>C (p.Ile191=) rs2107939438
NM_000925.4(PDHB):c.582C>T (p.Asn194=) rs994015584
NM_000925.4(PDHB):c.589+11G>A
NM_000925.4(PDHB):c.589+14C>T
NM_000925.4(PDHB):c.589+7A>G rs762964497
NM_000925.4(PDHB):c.589+8C>G rs2107939394
NM_000925.4(PDHB):c.589+9A>C
NM_000925.4(PDHB):c.589+9A>G rs2107939389
NM_000925.4(PDHB):c.590-11A>G
NM_000925.4(PDHB):c.590-11_590-10del rs1179603141
NM_000925.4(PDHB):c.590-12T>A
NM_000925.4(PDHB):c.590-9G>A
NM_000925.4(PDHB):c.597G>A (p.Val199=)
NM_000925.4(PDHB):c.600A>G (p.Leu200=)
NM_000925.4(PDHB):c.621G>A (p.Gly207=) rs2062908611
NM_000925.4(PDHB):c.627T>G (p.Pro209=)
NM_000925.4(PDHB):c.675T>A (p.Ile225=)
NM_000925.4(PDHB):c.696G>A (p.Arg232=) rs2107938811
NM_000925.4(PDHB):c.6G>A (p.Ala2=) rs1203148983
NM_000925.4(PDHB):c.6G>C (p.Ala2=)
NM_000925.4(PDHB):c.700+17A>T rs754519817
NM_000925.4(PDHB):c.700+18T>C
NM_000925.4(PDHB):c.701-10C>G
NM_000925.4(PDHB):c.701-8G>A rs370346593
NM_000925.4(PDHB):c.708T>C (p.His236=) rs2107938396
NM_000925.4(PDHB):c.717G>C (p.Val239=) rs1576956301
NM_000925.4(PDHB):c.730A>C (p.Arg244=)
NM_000925.4(PDHB):c.741C>T (p.Gly247=)
NM_000925.4(PDHB):c.768A>G (p.Leu256=) rs2062903975
NM_000925.4(PDHB):c.78C>A (p.Thr26=)
NM_000925.4(PDHB):c.792+13T>C
NM_000925.4(PDHB):c.792+18T>C
NM_000925.4(PDHB):c.792+19_792+24del
NM_000925.4(PDHB):c.792+9A>G rs762944918
NM_000925.4(PDHB):c.793-10_793-7dup rs2062893900
NM_000925.4(PDHB):c.793-13A>G
NM_000925.4(PDHB):c.793-15A>G
NM_000925.4(PDHB):c.793-16T>C
NM_000925.4(PDHB):c.793-16T>G
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.793-19_793-16del
NM_000925.4(PDHB):c.810C>T (p.Thr270=) rs1444305170
NM_000925.4(PDHB):c.825C>T (p.Asp275=)
NM_000925.4(PDHB):c.840A>G (p.Glu280=)
NM_000925.4(PDHB):c.861T>C (p.Asn287=) rs1237030552
NM_000925.4(PDHB):c.885C>G (p.Gly295=) rs763844372
NM_000925.4(PDHB):c.906A>G (p.Gly302=)
NM_000925.4(PDHB):c.90G>A (p.Ala30=) rs2107943592
NM_000925.4(PDHB):c.927C>T (p.Ile309=)
NM_000925.4(PDHB):c.934+11G>T
NM_000925.4(PDHB):c.935-14CTTC[3]
NM_000925.4(PDHB):c.935-17A>G
NM_000925.4(PDHB):c.935-17del
NM_000925.4(PDHB):c.935-4C>T
NM_000925.4(PDHB):c.935-5C>A rs1418680590
NM_000925.4(PDHB):c.935-5C>G rs1418680590
NM_000925.4(PDHB):c.935-5C>T rs1418680590
NM_000925.4(PDHB):c.935-7C>T rs2107936427
NM_000925.4(PDHB):c.935-9T>C rs935875454
NM_000925.4(PDHB):c.939T>C (p.Pro313=) rs1576955073
NM_000925.4(PDHB):c.93G>A (p.Leu31=)
NM_000925.4(PDHB):c.951C>T (p.Phe317=)
NM_000925.4(PDHB):c.952C>T (p.Leu318=)
NM_000925.4(PDHB):c.954G>C (p.Leu318=) rs1576955034
NM_000925.4(PDHB):c.954G>T (p.Leu318=) rs1576955034
NM_000925.4(PDHB):c.96+10G>C rs755528489
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_000925.4(PDHB):c.96+12G>C rs773433623
NM_000925.4(PDHB):c.96+13G>A
NM_000925.4(PDHB):c.96+13G>T
NM_000925.4(PDHB):c.96+14G>T
NM_000925.4(PDHB):c.96+17C>T
NM_000925.4(PDHB):c.96+19C>G
NM_000925.4(PDHB):c.96+19C>T
NM_000925.4(PDHB):c.96+8G>T rs2062943444
NM_000925.4(PDHB):c.96+9C>G
NM_000925.4(PDHB):c.97-10C>T rs2107941338
NM_000925.4(PDHB):c.97-13A>G
NM_000925.4(PDHB):c.97-4A>T rs2107941318
NM_000925.4(PDHB):c.97-7G>C rs2107941329
NM_000925.4(PDHB):c.97-8T>C
NM_000925.4(PDHB):c.975C>T (p.Val325=)
NM_000925.4(PDHB):c.984T>C (p.Ala328=)
NM_000925.4(PDHB):c.990C>T (p.Val330=) rs267599918
NM_000925.4(PDHB):c.99G>A (p.Val33=) rs2107941297
NM_000925.4(PDHB):c.99G>T (p.Val33=)
NM_000925.4(PDHB):c.9G>T (p.Ala3=)

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