ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E2 deficiency

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508 0.00016
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly) rs376141049 0.00014
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser) rs149440666 0.00006
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile) rs782629889 0.00004
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu) rs782527135 0.00004
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln) rs782627956 0.00002
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp) rs782529801 0.00002
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850 0.00001
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser) rs782233322 0.00001
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu) rs1221769620 0.00001
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro) rs1555181965 0.00001
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn) rs113521778 0.00001
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly) rs147456178 0.00001
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln) rs1864460439 0.00001
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys) rs1864460815 0.00001
NM_001931.5(DLAT):c.1677+4G>C rs782793536 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr) rs782271482 0.00001
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr) rs1035034726 0.00001
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys) rs200147835 0.00001
NM_001931.5(DLAT):c.381+5_381+6insC rs782376838 0.00001
NM_001931.5(DLAT):c.381+6T>G rs1555179251 0.00001
NM_001931.5(DLAT):c.898A>G (p.Ile300Val) rs1198304536 0.00001
NM_001931.5(DLAT):c.983C>T (p.Ala328Val) rs781861956 0.00001
NC_000011.9:g.(?_111171709)_(112104278_?)dup
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000011.9:g.(?_111896197)_(111922093_?)dup
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser) rs982032675
NM_001931.5(DLAT):c.1130-6T>G
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)
NM_001931.5(DLAT):c.1290+5G>A rs886047694
NM_001931.5(DLAT):c.1290G>A (p.Arg430=) rs782283884
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg) rs1863289848
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe) rs147264946
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln) rs1863296122
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg) rs1863619150
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala) rs2135156193
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro) rs782260343
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser) rs1566642089
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser) rs782810132
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp) rs1864595330
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)
NM_001931.5(DLAT):c.253T>C (p.Tyr85His) rs782202863
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
NM_001931.5(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr) rs1201600211
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala) rs2137699929
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg) rs2137753489
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr) rs1862828399
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu) rs1862832629
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
NM_001931.5(DLAT):c.975+4G>A
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr) rs1862931114
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln) rs2137674476

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