ClinVar Miner

List of variants reported as uncertain significance for Combined malonic and methylmalonic acidemia by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp) rs148146761 0.00186
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00020
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00017
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00015
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met) rs373794208 0.00015
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu) rs763823186 0.00012
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) rs141607995 0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) rs141518662 0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys) rs749751646 0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) rs774006607 0.00006
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=) rs1183363077 0.00005
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) rs745633046 0.00005
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met) rs771946908 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg) rs1255089115 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00003
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu) rs776314400 0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) rs751551226 0.00003
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp) rs772907663 0.00003
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr) rs534495046 0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) rs754161182 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met) rs568882749 0.00002
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp) rs749661738 0.00002
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg) rs144818342 0.00002
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val) rs538442044 0.00002
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) rs1358680743 0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) rs1184733927 0.00001
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu) rs549664473 0.00001
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys) rs769987195 0.00001
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser) rs554194567 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu) rs1272786593 0.00001
NM_001243279.3(ACSF3):c.1501+4C>T rs780845520 0.00001
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg) rs141971462 0.00001
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu) rs765633249 0.00001
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu) rs570670205 0.00001
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) rs780364085 0.00001
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro) rs1193534929 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys) rs1407341761 0.00001
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His) rs750707295 0.00001
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met) rs189821127 0.00001
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro) rs2543521806 0.00001
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val) rs1441479986 0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659 0.00001
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) rs376098216 0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr) rs761573352 0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser) rs1975498120 0.00001
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys) rs777750370 0.00001
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys) rs745453668 0.00001
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89211655)_(89220615_?)dup
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) rs761084443
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly) rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys) rs144907664
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) rs1904713918
NM_001243279.3(ACSF3):c.1126+5G>A rs371622529
NM_001243279.3(ACSF3):c.1126+5G>C rs371622529
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala) rs2543769903
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp) rs2543861142
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu) rs1912700600
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu) rs377596983
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg) rs746403921
NM_001243279.3(ACSF3):c.1523C>T (p.Pro508Leu)
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu) rs1450563045
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met) rs2543867070
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser) rs779820462
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly) rs1448355025
NM_001243279.3(ACSF3):c.1720del (p.His574fs) rs1471702467
NM_001243279.3(ACSF3):c.1724C>A (p.Pro575His)
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln) rs1975216832
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro) rs776862565
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp) rs1436170905
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) rs373476048
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg) rs143605434
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) rs530503915
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) rs1299639090
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser) rs2151406892
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu) rs781163359
NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg) rs1292276846
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His) rs370968781
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile) rs952318867
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr) rs11547019
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln) rs2543523931
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro) rs997839400
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile) rs775624630
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) rs765454020
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met) rs763619768
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp) rs1381634837
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser) rs373246881
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile) rs373246881
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu) rs762286480
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) rs1277612080
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp) rs2151444631
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser) rs2543607322
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu) rs765321738
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe) rs1975195262
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro) rs2543519630
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser) rs745453668

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.