ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E3 deficiency

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
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.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.*845G>A rs750426584 0.00024
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609 0.00021
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.549G>A (p.Thr183=) rs150630885 0.00012
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.1492A>C (p.Asn498His) rs564889609 0.00006
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) rs567286177 0.00006
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000108.5(DLD):c.764T>C (p.Met255Thr) rs185710460 0.00004
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326 0.00004
NM_000108.5(DLD):c.82T>C (p.Ser28Pro) rs768123909 0.00004
NM_000108.5(DLD):c.869A>G (p.Asp290Gly) rs143555186 0.00004
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046 0.00003
NM_000108.5(DLD):c.92C>G (p.Pro31Arg) rs776872575 0.00003
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr) rs140260331 0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 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.597A>T (p.Thr199=) rs768248572 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000108.5(DLD):c.901G>A (p.Ala301Thr) rs1466290130 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.1266A>G (p.Pro422=) rs766756785 0.00001
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu) rs1406495040 0.00001
NM_000108.5(DLD):c.1372C>G (p.Pro458Ala) rs779723449 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.199-7G>T rs1358100638 0.00001
NM_000108.5(DLD):c.209T>C (p.Ile70Thr) rs373761188 0.00001
NM_000108.5(DLD):c.236C>T (p.Thr79Ile) rs1064795549 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000108.5(DLD):c.419A>G (p.His140Arg) rs767210810 0.00001
NM_000108.5(DLD):c.65A>G (p.His22Arg) rs914629774 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.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly) rs776547214
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
NM_000108.5(DLD):c.118+12A>G
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
NM_000108.5(DLD):c.1236+5G>A
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro) rs2032348536
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
NM_000108.5(DLD):c.163G>A (p.Val55Ile) rs2116207217
NM_000108.5(DLD):c.191G>C (p.Gly64Ala) rs2031883055
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
NM_000108.5(DLD):c.217A>C (p.Asn73His) rs796051949
NM_000108.5(DLD):c.268-3T>A rs2031928500
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
NM_000108.5(DLD):c.305A>T (p.His102Leu) rs893865374
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
NM_000108.5(DLD):c.361G>A (p.Asp121Asn) rs780305161
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.39+3G>C rs2031564629
NM_000108.5(DLD):c.40-3T>A
NM_000108.5(DLD):c.40-3T>C rs2116162419
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.499G>A (p.Ala167Thr) rs2116221690
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
NM_000108.5(DLD):c.542T>C (p.Ile181Thr) rs1291809324
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
NM_000108.5(DLD):c.596C>A (p.Thr199Lys) rs1336962180
NM_000108.5(DLD):c.597A>G (p.Thr199=) rs768248572
NM_000108.5(DLD):c.656T>C (p.Ile219Thr) rs2032006962
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
NM_000108.5(DLD):c.6G>C (p.Gln2His)
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
NM_000108.5(DLD):c.79C>T (p.Leu27Phe) rs2116162795
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) rs192349677
NM_000108.5(DLD):c.866T>C (p.Ile289Thr) rs2116264648
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
NM_000108.5(DLD):c.919G>A (p.Asp307Asn) rs2032282601
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
NM_000108.5(DLD):c.991C>G (p.Leu331Val)

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