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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	rs370382601	0.00053
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	rs772073893	0.00005
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)	rs761852278	0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	rs768886326	0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	rs757905943	0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	rs752338222	0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	rs1450563045	0.00002
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.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.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	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.408T>A (p.Tyr136Ter)	rs1313088429	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
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NM_001243279.3(ACSF3):c.1127-2A>T
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)
NM_001243279.3(ACSF3):c.1231_1239+9del
NM_001243279.3(ACSF3):c.1239+1G>A
NM_001243279.3(ACSF3):c.1240-1G>A
NM_001243279.3(ACSF3):c.1240-1G>C
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	rs775794698
NM_001243279.3(ACSF3):c.1293del (p.Val432fs)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	rs764608253
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	rs2151521127
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)
NM_001243279.3(ACSF3):c.1366+1G>A
NM_001243279.3(ACSF3):c.1366+1G>T
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1367-2_1367-1del
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	rs2151405491
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)	rs1912702795
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1502-1G>C
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	rs745684193
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	rs1912887899
NM_001243279.3(ACSF3):c.1614-2A>G
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)	rs1914445437
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)
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	rs775569136
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)	rs1378197369
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)	rs752534981
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	rs1313088429
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)	rs1366314967
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)
NM_001243279.3(ACSF3):c.653del (p.Asn218fs)
NM_001243279.3(ACSF3):c.666+1G>T
NM_001243279.3(ACSF3):c.667-1G>T
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	rs1432097143
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	rs1975494455
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)
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
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001243279.3(ACSF3):c.967del (p.Glu323fs)
NM_001243279.3(ACSF3):c.977+1G>A
NM_001243279.3(ACSF3):c.977+1G>C	rs141056046
NM_001243279.3(ACSF3):c.977+1G>T

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