List of variants in gene combination CLPB, LOC126861258 reported as uncertain significance for 3-methylglutaconic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)	rs559592563	0.00006
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)	rs746582120	0.00002
NM_001258392.3(CLPB):c.1123-3C>T	rs764474532	0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	rs786205137	0.00001
NM_001258392.3(CLPB):c.1167+6T>C	rs748976093	0.00001
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)	rs1258428897	0.00001
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)	rs140355579	0.00001
NM_001258392.3(CLPB):c.1123-3C>A
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)	rs1949671839
NM_001258392.3(CLPB):c.1160G>A (p.Arg387Gln)
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)	rs202009794
NM_001258392.3(CLPB):c.1167+3G>T
NM_001258392.3(CLPB):c.1168-3C>G
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)	rs138691107
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)	rs1590764241
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)	rs758030499
NM_001258392.3(CLPB):c.1307T>C (p.Ile436Thr)
NM_001258392.3(CLPB):c.1318C>A (p.Leu440Met)
NM_001258392.3(CLPB):c.1329+9_1329+10inv

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