ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NM_000116.5(TAZ):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAZ):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAZ):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAZ):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAZ):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
NM_001258392.3(CLPB):c.646+7310G>A
NM_001258392.3(CLPB):c.646+7323G>T rs374473067
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.3(AUH):c.197del (p.Gly66fs)
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)

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