List of variants in gene ACSF3 reported as 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: 106

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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.728C>T (p.Pro243Leu)	rs140986055	0.00022
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.1470G>C (p.Glu490Asp)	rs147538370	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.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.1405C>T (p.Arg469Ter)	rs748382994	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	rs1025201214	0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	rs387907118	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.89112092del	rs750594210
NC_000016.9:g.(?_89160207)_(89203247_?)del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89164989)_(89222264_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167090)_(89169187_?)del
NC_000016.9:g.(?_89167090)_(89220615_?)del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89222264_?)del
NC_000016.9:g.(?_89183388)_(89187331_?)del
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.(?_89199534)_(89222264_?)del
NC_000016.9:g.(?_89220488)_(89222264_?)del
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)	rs2151478908
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)
NM_001243279.3(ACSF3):c.1239+2T>G
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	rs775794698
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	rs764608253
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)	rs1909702747
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	rs2151521127
NM_001243279.3(ACSF3):c.134del (p.Pro45fs)	rs2151405469
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	rs751342087
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)	rs1912700120
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	rs1064793662
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	rs745684193
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)	rs767958353
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)	rs1350227206
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	rs1912887899
NM_001243279.3(ACSF3):c.1613+2T>C	rs2151564932
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)	rs139520739
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)
NM_001243279.3(ACSF3):c.16del (p.Val6fs)	rs1338859307
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)	rs1776373606
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)
NM_001243279.3(ACSF3):c.238del (p.Gln80fs)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	rs775569136
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)	rs1975233179
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	rs1313088429
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
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.643_647del (p.Thr215fs)	rs1567685802
NM_001243279.3(ACSF3):c.675del (p.Leu226fs)	rs1597898076
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	rs1432097143
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	rs1975494455
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	rs767946490
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)	rs2151416957
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)	rs570233664
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001243279.3(ACSF3):c.953del (p.Arg318fs)
NM_001243279.3(ACSF3):c.973del (p.Ile325fs)
NM_001243279.3(ACSF3):c.[1385A>C;1394_1411del]

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