ClinVar Miner

List of variants in gene ACSF3 reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
ACSF3, LYS462THR AND GLY465_GLY470 DEL
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.89178499del
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)

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