ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191 0.09452
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_032861.4(SERAC1):c.1016-11C>T rs41269577 0.04319
NM_032861.4(SERAC1):c.1403+12G>A rs117813106 0.02692
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939 0.02006
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203 0.01762
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641 0.01607
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721 0.00764
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_032861.4(SERAC1):c.739-10T>G rs118093738 0.00555
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00324
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513 0.00253
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137 0.00170
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_001258392.3(CLPB):c.1122+16T>C rs187846751 0.00147
NM_145261.4(DNAJC19):c.281-12T>C rs141982712 0.00123
NM_001698.3(AUH):c.135G>A (p.Ala45=) rs774989333 0.00111
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332 0.00088
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731 0.00043
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_001258392.3(CLPB):c.404-16C>T rs371250603 0.00032
NM_001017989.3(OPA3):c.486C>T (p.His162=) rs201078416 0.00022
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581 0.00018
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559 0.00014
NM_032861.4(SERAC1):c.1308+17C>A rs201126863 0.00014
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186 0.00012
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382 0.00011
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) rs544489365 0.00010
NM_001258392.3(CLPB):c.776-10C>G rs141271919 0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_032861.4(SERAC1):c.487+19C>T rs372997779 0.00009
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616 0.00007
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600 0.00006
NM_145261.4(DNAJC19):c.210-7T>A rs779367415 0.00006
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193 0.00005
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002 0.00004
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072 0.00004
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001698.3(AUH):c.943-6T>C rs778134028 0.00002
NM_032861.4(SERAC1):c.266-11A>G rs574469098 0.00002
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_001258392.3(CLPB):c.404-12dup
NM_001698.3(AUH):c.895-9del rs1194639501
NM_001698.3(AUH):c.943-6del rs1826708001
NM_025136.4(OPA3):c.143-5dup
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1502-24dup rs780420200
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.92-10del
NM_145261.4(DNAJC19):c.281-15dup rs764813798

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