ClinVar Miner

List of variants in gene ACSF3, LOC125177393 studied for combined malonic and methylmalonic acidemia

Included ClinVar conditions (1):
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Gene type:
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_001243279.3(ACSF3):c.1126+40G>T rs3743980 0.65690
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02239
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00878
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
NM_001243279.3(ACSF3):c.978-6G>A rs377217672 0.00025
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) rs560149696 0.00004
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144 0.00004
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559 0.00003
NM_001243279.3(ACSF3):c.978-4G>A rs370451473 0.00003
NM_001243279.3(ACSF3):c.978-1G>A rs756599931 0.00002
NM_001243279.3(ACSF3):c.978-5C>T rs767914459 0.00002
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) rs1358680743 0.00001
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) rs757799912 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=) rs747906365 0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) rs1184733927 0.00001
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626 0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) rs142288136 0.00001
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=) rs967555706 0.00001
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=) rs765752531 0.00001
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=) rs750959933 0.00001
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=) rs1373279774 0.00001
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs) rs2151453936
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) rs1389252296
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter) rs1131691498
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) rs761084443
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) rs150487794
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=) rs1156341271
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs) rs769183050
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=) rs750959933
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs) rs2151454690
NM_001243279.3(ACSF3):c.1113del (p.Val372fs)
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) rs2151454775
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly) rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) rs2151454814
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) rs1904713918
NM_001243279.3(ACSF3):c.1126+10C>T rs2151454938
NM_001243279.3(ACSF3):c.1126+18A>C
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1126+5G>A
NM_001243279.3(ACSF3):c.1126+5G>C
NM_001243279.3(ACSF3):c.978-11_978-9del
NM_001243279.3(ACSF3):c.978-19C>G
NM_001243279.3(ACSF3):c.978-19C>T
NM_001243279.3(ACSF3):c.978-20C>T
NM_001243279.3(ACSF3):c.978-2A>G
NM_001243279.3(ACSF3):c.978-6G>T rs377217672
NM_001243279.3(ACSF3):c.978-83C>G rs9940965
NM_001243279.3(ACSF3):c.978-8C>T
NM_001243279.3(ACSF3):c.987C>A (p.Val329=) rs1426240105
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=) rs2151453873
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=) rs2151453925

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