ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224 0.00022
NM_145261.4(DNAJC19):c.130-1G>C rs137854888 0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter) rs1560040369 0.00001
NM_145261.4(DNAJC19):c.102del (p.Lys34fs)
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
NM_145261.4(DNAJC19):c.51del (p.Phe17fs) rs1715007577
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666

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