List of variants in gene ACSF3 reported as uncertain significance 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: 155

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.823-4G>C	rs558325262	0.00067
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)	rs140941507	0.00061
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	rs370382601	0.00053
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	rs375374971	0.00031
NM_001243279.3(ACSF3):c.1502-4G>A	rs111414659	0.00024
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	rs140986055	0.00022
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)	rs539500659	0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)	rs781425127	0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	rs145141190	0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)	rs147915828	0.00018
NM_001243279.3(ACSF3):c.1613+3A>C	rs373631805	0.00018
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	rs202182978	0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)	rs200703917	0.00016
NM_001243279.3(ACSF3):c.1613+8T>G	rs1358602745	0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)	rs756279730	0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)	rs200146632	0.00013
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	rs139520739	0.00012
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)	rs141607995	0.00012
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	rs141518662	0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)	rs201953109	0.00011
NM_001243279.3(ACSF3):c.1127-5T>C	rs200245960	0.00010
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn)	rs535695991	0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	rs368696141	0.00010
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)	rs545886514	0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	rs144411003	0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)	rs150374081	0.00009
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	rs759448696	0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)	rs148768970	0.00007
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)	rs774006607	0.00006
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)	rs780364085	0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)	rs745633046	0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)	rs570233664	0.00005
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	rs144711526	0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)	rs766713747	0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)	rs200029061	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)	rs761852278	0.00004
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)	rs776314400	0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	rs142633119	0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	rs768886326	0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)	rs377732201	0.00004
NM_001243279.3(ACSF3):c.666+9C>T	rs767663198	0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)	rs377354800	0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=)	rs202119269	0.00004
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)	rs375187216	0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)	rs751551226	0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)	rs754161182	0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)	rs200352879	0.00003
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)	rs563580010	0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	rs747338200	0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)	rs145969050	0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	rs901081235	0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)	rs375671065	0.00002
NM_001243279.3(ACSF3):c.1127-7C>G	rs761564953	0.00001
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)	rs554194567	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)	rs776369896	0.00001
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)	rs1272786593	0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)	rs780402535	0.00001
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)	rs750707295	0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)	rs754782061	0.00001
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)	rs1441479986	0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)	rs774006659	0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)	rs761573352	0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg)	rs775694971	0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)	rs1975498120	0.00001
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89211655)_(89220615_?)dup
NM_001243279.3(ACSF3):c.-8T>A	rs1210097201
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)	rs781134234
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr)	rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)	rs137995833
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1367-464C>T	rs2151560692
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)	rs377596983
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)	rs1187720594
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
NM_001243279.3(ACSF3):c.1501+4C>T
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
NM_001243279.3(ACSF3):c.1523C>T (p.Pro508Leu)
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)	rs1450563045
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)	rs779820462
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)	rs570670205
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	rs140328142
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)	rs1448355025
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
NM_001243279.3(ACSF3):c.1724C>A (p.Pro575His)
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)	rs373476048
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)	rs530503915
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)	rs1299639090
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)	rs2151406892
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)	rs781163359
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)	rs1292276846
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)	rs370968781
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)	rs747228733
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)	rs1567685421
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)	rs376098216
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)	rs538548478
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
NM_001243279.3(ACSF3):c.667-9C>T	rs369865917
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)	rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)	rs765454020
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)	rs1277612080
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
NM_001243279.3(ACSF3):c.83G>A (p.Gly28Glu)
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)	rs1975195262
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.