ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000116.5(TAZ):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAZ):c.584-7del rs782192927
NM_000116.5(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAZ):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAZ):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAZ):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAZ):c.801G>A (p.Thr267=) rs781792950
NM_001017989.3(OPA3):c.143-24231C>A rs1022155897
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909

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