ClinVar Miner

List of variants reported as benign for 3-methylglutaconic aciduria by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513
NM_145261.4(DNAJC19):c.210-7T>A rs779367415
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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