ClinVar Miner

List of variants in gene DNAJC19 reported as likely pathogenic for 3-methylglutaconic aciduria type 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) rs755024172
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666

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