ClinVar Miner

List of variants in gene combination ACSF3, LOC125177393 reported as likely benign for Combined malonic and methylmalonic acidemia

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
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.1113C>T (p.Ala371=) rs201792144 0.00006
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=) rs899144976 0.00005
NM_001243279.3(ACSF3):c.978-4G>A rs370451473 0.00004
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559 0.00003
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626 0.00003
NM_001243279.3(ACSF3):c.978-19C>T rs769697688 0.00003
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) rs757799912 0.00001
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=) rs747906365 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.1107C>T (p.Thr369=) rs750959933 0.00001
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=) rs745825913 0.00001
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=) rs1373279774 0.00001
NM_001243279.3(ACSF3):c.978-5C>T rs767914459 0.00001
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) rs1389252296
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=) rs2543626145
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=) rs2543626345
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
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.1107C>G (p.Thr369=) rs750959933
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) rs2151454775
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) rs2151454814
NM_001243279.3(ACSF3):c.1126+10C>T rs2151454938
NM_001243279.3(ACSF3):c.1126+18A>C rs2543627317
NM_001243279.3(ACSF3):c.978-11_978-9del
NM_001243279.3(ACSF3):c.978-19C>G rs769697688
NM_001243279.3(ACSF3):c.978-20C>T rs2543625330
NM_001243279.3(ACSF3):c.978-6G>T rs377217672
NM_001243279.3(ACSF3):c.978-8C>T rs2543625517
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=) rs2543625726
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=) rs75591977
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=) rs2151453925

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