ClinVar Miner

List of variants in gene ACSF3 reported as likely pathogenic for combined malonic and methylmalonic acidemia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00273
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.1411C>T (p.Arg471Trp) rs138680796 0.00017
NM_001243279.3(ACSF3):c.667-2A>G rs373322510 0.00006
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter) rs1450563045 0.00003
NM_001243279.3(ACSF3):c.1614-2A>G rs201475621 0.00003
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00003
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) rs138156311 0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) rs142575695 0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter) rs771558691 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1366+1G>A rs1389783773 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1501+1G>T rs904050143 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) rs1025201214 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001243279.3(ACSF3):c.1613+1G>A rs770400253 0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040 0.00001
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter) rs1313088429 0.00001
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222 0.00001
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter) rs1975291440 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter) rs749538361 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs) rs758740850 0.00001
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter) rs1446221617 0.00001
NM_001243279.3(ACSF3):c.977+1G>A rs141056046 0.00001
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89167111)_(89178323_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NM_001243279.3(ACSF3):c.1127-2A>T rs2543677662
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter) rs2543678040
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs) rs2151478908
NM_001243279.3(ACSF3):c.1192del (p.Ala398fs) rs2543678202
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter) rs747598756
NM_001243279.3(ACSF3):c.1202dup (p.Tyr401Ter)
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter) rs776003939
NM_001243279.3(ACSF3):c.1231_1239+9del rs2543678477
NM_001243279.3(ACSF3):c.1234del (p.Thr412fs) rs2543678510
NM_001243279.3(ACSF3):c.1239+1G>A rs2543678580
NM_001243279.3(ACSF3):c.1240-1G>A rs1203702127
NM_001243279.3(ACSF3):c.1240-1G>C rs1203702127
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs) rs2543769726
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs) rs775794698
NM_001243279.3(ACSF3):c.1293del (p.Val432fs) rs761054207
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs) rs764608253
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter) rs2543770114
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter) rs2543770251
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) rs2151521127
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs) rs2543770296
NM_001243279.3(ACSF3):c.1333_1334del (p.Ser445fs) rs2543770313
NM_001243279.3(ACSF3):c.1366+1G>T rs1389783773
NM_001243279.3(ACSF3):c.1367-23_1396del rs1567745645
NM_001243279.3(ACSF3):c.1367-2A>C rs771531777
NM_001243279.3(ACSF3):c.1367-2_1367-1del rs2543860989
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG rs2543860599
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs) rs2151405491
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001243279.3(ACSF3):c.1382_1383del (p.Val460_Phe461insTer) rs2543861101
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp) rs2543861142
NM_001243279.3(ACSF3):c.1394_1411del (p.Gln465_Gly470del) rs1459270286
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter) rs1912700120
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) rs1912702795
NM_001243279.3(ACSF3):c.1448dup (p.Val484fs) rs2543861570
NM_001243279.3(ACSF3):c.1469A>T (p.Glu490Val)
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs) rs2543520086
NM_001243279.3(ACSF3):c.1485_1486dup (p.His496fs)
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs) rs1217487621
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs) rs1217487621
NM_001243279.3(ACSF3):c.1501+1G>A rs904050143
NM_001243279.3(ACSF3):c.1502-1G>C rs750796059
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs) rs2543867000
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs) rs745684193
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs) rs2543867156
NM_001243279.3(ACSF3):c.1577dup (p.His526fs) rs2543867318
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter) rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs) rs1912887899
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs) rs2543916694
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) rs1914445437
NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter) rs757338614
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter) rs2543916866
NM_001243279.3(ACSF3):c.1663del (p.Glu555fs)
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) rs140328142
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.16del (p.Val6fs) rs1338859307
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) rs796051924
NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs) rs2543520412
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter) rs1405537973
NM_001243279.3(ACSF3):c.261del (p.Cys88fs) rs775569136
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs) rs2543521082
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) rs1378197369
NM_001243279.3(ACSF3):c.342_344delinsCTG (p.Ser115Ter)
NM_001243279.3(ACSF3):c.344C>A (p.Ser115Ter)
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter) rs752534981
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs) rs2543522617
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter) rs1313088429
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs) rs2543523138
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter) rs2543523260
NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs) rs761494200
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs) rs2543524167
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001243279.3(ACSF3):c.628A>T (p.Lys210Ter)
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met) rs747820684
NM_001243279.3(ACSF3):c.653del (p.Asn218fs) rs2543525168
NM_001243279.3(ACSF3):c.666+1G>T rs1336382616
NM_001243279.3(ACSF3):c.667-1G>T rs778778276
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter) rs1432097143
NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter) rs1975483671
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs) rs2543538575
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs) rs1975494455
NM_001243279.3(ACSF3):c.776G>A (p.Trp259Ter)
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs) rs2543538990
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.823-1G>A rs2543606903
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter) rs1976753607
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter) rs1976773862
NM_001243279.3(ACSF3):c.947del (p.Phe316fs)
NM_001243279.3(ACSF3):c.967del (p.Glu323fs) rs2543608092
NM_001243279.3(ACSF3):c.977+1G>C rs141056046
NM_001243279.3(ACSF3):c.977+1G>T rs141056046
NM_001243279.3(ACSF3):c.977+2T>C

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