ClinVar Miner

List of variants reported as uncertain significance for 3-Methylglutaconic aciduria type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00011
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00005
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00002
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met) rs1557191093 0.00001
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197 0.00001
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe) rs984997023 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln) rs2522950984 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.542-3C>T rs781795144 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=) rs374146054 0.00001
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile) rs1557194167 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.700-13G>A rs2068602941 0.00001
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln) rs397515748 0.00001
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445 0.00001
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val) rs1557194416 0.00001
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) rs1557194499 0.00001
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600 0.00001
NC_000023.10:g.(?_153592370)_(153775961_?)dup
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153642547_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile) rs2522920277
NM_000116.5(TAFAZZIN):c.110-18C>T rs2522923147
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys) rs2522923530
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile) rs1557191054
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser) rs2522923680
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu) rs2522924011
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln) rs794729166
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val) rs2522924499
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met) rs2522924558
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn) rs782245384
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val) rs12845698
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu) rs2522925157
NM_000116.5(TAFAZZIN):c.223G>T (p.Asp75Tyr)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His) rs2522925360
NM_000116.5(TAFAZZIN):c.243C>G (p.Ile81Met)
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A rs2522937677
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser) rs782316788
NM_000116.5(TAFAZZIN):c.293C>T (p.Ala98Val)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr) rs2522942035
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile) rs2522942187
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile) rs2522942389
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro) rs2522943530
NM_000116.5(TAFAZZIN):c.370+2T>A rs2522943654
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg) rs1603377945
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu) rs782404246
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val) rs2522950472
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser) rs1557190850
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter) rs1557192014
NM_000116.5(TAFAZZIN):c.387A>G (p.Gln129=)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr) rs2522950592
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile) rs2522918261
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044
NM_000116.5(TAFAZZIN):c.408T>G (p.Gly136=)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del rs2522984405
NM_000116.5(TAFAZZIN):c.461-3C>A rs2522984485
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn) rs2068570204
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly) rs2522985355
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile) rs2522919623
NM_000116.5(TAFAZZIN):c.541+13_541+28del rs2522985782
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg) rs2522985589
NM_000116.5(TAFAZZIN):c.542-9T>C
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=) rs2068574912
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) rs876661034
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro) rs876661034
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met) rs2522987068
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu) rs2522990272
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr) rs2522990563
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg) rs2522990639
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile) rs782671998
NM_000116.5(TAFAZZIN):c.646+5G>T
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu) rs782498126
NM_000116.5(TAFAZZIN):c.696A>G (p.Gly232=)
NM_000116.5(TAFAZZIN):c.699+6T>G rs2522992887
NM_000116.5(TAFAZZIN):c.699+6del
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=) rs1557194341
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile) rs868954257
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu) rs2522996647
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile) rs2522996668
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile) rs2522996841
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.787C>T (p.Arg263Trp)
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln) rs1557194476
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.804del (p.Phe269fs)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro) rs2522999144
NM_000116.5(TAFAZZIN):c.81G>T (p.Leu27Phe)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile) rs2522999285
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs) rs2522999343
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln) rs782595182
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg) rs2522920099
NM_000116.5(TAFAZZIN):c.872G>A (p.Gly291Glu)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys) rs2522920242
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)

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