ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 5 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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