ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria type 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=) rs373886730 0.00044
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) rs376891597 0.00016
NM_145261.4(DNAJC19):c.3+16C>T rs367841424 0.00014
NM_145261.4(DNAJC19):c.129+15A>C rs201697391 0.00011
NM_145261.4(DNAJC19):c.280+2dup rs756616792 0.00007
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488 0.00004
NM_145261.4(DNAJC19):c.210-17T>C rs750700018 0.00002
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=) rs367996239 0.00002
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=) rs1400868784 0.00001
NM_145261.4(DNAJC19):c.129+11G>T rs546533068 0.00001
NM_145261.4(DNAJC19):c.210-19C>T rs780397593 0.00001
NM_145261.4(DNAJC19):c.280+16A>T rs773185733 0.00001
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=) rs771098271 0.00001
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
NM_145261.4(DNAJC19):c.209+11C>T rs374496383
NM_145261.4(DNAJC19):c.209+19T>C
NM_145261.4(DNAJC19):c.210-12T>A
NM_145261.4(DNAJC19):c.210-14_210-13del rs757422860
NM_145261.4(DNAJC19):c.210-18A>G
NM_145261.4(DNAJC19):c.210-4T>C
NM_145261.4(DNAJC19):c.280+15A>C
NM_145261.4(DNAJC19):c.280+19C>A rs1203314065
NM_145261.4(DNAJC19):c.281-15T>G
NM_145261.4(DNAJC19):c.281-21_281-19del
NM_145261.4(DNAJC19):c.281-21_281-20del
NM_145261.4(DNAJC19):c.281-4A>G
NM_145261.4(DNAJC19):c.281-5T>A rs766954639
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=) rs2108506993
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
NM_145261.4(DNAJC19):c.55+10T>C
NM_145261.4(DNAJC19):c.55+20A>T rs1577025780
NM_145261.4(DNAJC19):c.56-17G>C
NM_145261.4(DNAJC19):c.56-7G>T
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=) rs145786060
NM_145261.4(DNAJC19):c.84T>C (p.His28=)

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