ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269

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