ClinVar Miner

List of variants studied for Pyruvate dehydrogenase lipoic acid synthetase deficiency by Invitae

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Total variants: 98
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HGVS dbSNP
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NM_001363700.2(LIAS):c.299+1682_299+1690del rs776064587
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) rs199942447
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) rs761295906
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
NM_006859.4(LIAS):c.168G>A (p.Arg56=) rs768182597
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
NM_006859.4(LIAS):c.212del (p.Gly71fs)
NM_006859.4(LIAS):c.218+4A>G
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) rs1560666276
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
NM_006859.4(LIAS):c.266dup (p.Asn89fs)
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp) rs796052702
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032
NM_006859.4(LIAS):c.312A>G (p.Thr104=) rs749254524
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
NM_006859.4(LIAS):c.393+10G>A rs372094616
NM_006859.4(LIAS):c.393+4G>A rs368453789
NM_006859.4(LIAS):c.393+7C>A rs372423537
NM_006859.4(LIAS):c.393+7C>T rs372423537
NM_006859.4(LIAS):c.393+8C>A rs201574806
NM_006859.4(LIAS):c.394-6T>C
NM_006859.4(LIAS):c.403G>C (p.Asp135His) rs772011702
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) rs751421705
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs796052704
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) rs1210720598
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser) rs1196873747
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) rs1560669433
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln) rs570807277
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) rs1021766315
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) rs746107734
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949
NM_006859.4(LIAS):c.737+1G>A rs546751789
NM_006859.4(LIAS):c.737+9G>A rs750744754
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) rs146513468
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu) rs1427248293
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) rs1560671038
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) rs369125654
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu) rs528498907
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
NM_006859.4(LIAS):c.890G>A (p.Arg297His) rs756021613
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) rs1206469888
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775
NM_006859.4(LIAS):c.999A>G (p.Lys333=)

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