ClinVar Miner

List of variants in gene ACSF3 reported as uncertain significance for Combined malonic and methylmalonic acidemia

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Gene type:
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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp) rs148146761 0.00186
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00060
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00023
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00021
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00020
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
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.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
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.672C>T (p.Thr224=) rs150374081 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.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr) rs144411003 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.666+9C>T rs767663198 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 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.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
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.1721dup (p.His574fs) rs768886326 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.1376T>C (p.Val459Ala) rs750309846 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 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.480C>T (p.Val160=) rs375671065 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.-8T>A rs1210097201 0.00001
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu) rs549664473 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro) rs781134234 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.1369G>A (p.Asp457Asn) rs535695991 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His) rs776369896 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.356G>A (p.Gly119Asp) rs754782061 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.673G>A (p.Gly225Arg) rs775694971 0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser) rs1975498120 0.00001
NM_001243279.3(ACSF3):c.83G>A (p.Gly28Glu) rs764393364 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.1280T>C (p.Val427Ala) rs2543769903
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1367-23_1396del rs1567745645
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
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.1406G>A (p.Arg469Gln) rs144681140
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.149C>T (p.Ala50Val) rs1187720594
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.1673G>C (p.Arg558Pro) rs140328142
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.491G>A (p.Gly164Glu) rs747228733
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.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro) rs997839400
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
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

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