ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria type 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_145261.3(DNAJC19):c.*194_*197delATTA rs886058203
NM_145261.3(DNAJC19):c.*212C>T rs190670376
NM_145261.3(DNAJC19):c.*325T>C rs886058202
NM_145261.3(DNAJC19):c.*365T>C rs143458718
NM_145261.3(DNAJC19):c.*441G>A rs1805635
NM_145261.3(DNAJC19):c.*488G>C rs576646391
NM_145261.3(DNAJC19):c.*516A>G rs762130203
NM_145261.3(DNAJC19):c.*542_*543dupGT rs148074891
NM_145261.3(DNAJC19):c.*645A>C rs146964003
NM_145261.3(DNAJC19):c.*692T>C rs555888288
NM_145261.3(DNAJC19):c.-121C>T rs886058205
NM_145261.3(DNAJC19):c.-29G>T rs181271620
NM_145261.3(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.3(DNAJC19):c.129+15A>C rs201697391
NM_145261.3(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.3(DNAJC19):c.281-12T>C rs141982712
NM_145261.3(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.3(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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