ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00024
NM_145261.4(DNAJC19):c.*488G>C rs576646391 0.00007
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr) rs757569013 0.00007
NM_145261.4(DNAJC19):c.280+1G>A rs774006022 0.00004
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515 0.00003
NM_145261.4(DNAJC19):c.129+6A>G rs192629594 0.00002
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met) rs1714941468 0.00002
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221 0.00002
NM_145261.4(DNAJC19):c.280+5G>C rs762722601 0.00002
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile) rs550711498 0.00002
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser) rs781284254 0.00001
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His) rs1714943164 0.00001
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser) rs754317673 0.00001
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg) rs1577024355 0.00001
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln) rs1193024848 0.00001
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln) rs199774384 0.00001
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val) rs762783413 0.00001
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser) rs200732155 0.00001
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala) rs968957502 0.00001
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val) rs1419296050 0.00001
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg) rs776130966 0.00001
NM_145261.4(DNAJC19):c.*190ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*528GT[9] rs148074891
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del) rs1390438286
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly) rs749213568
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His) rs2473930415
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp) rs2108508819
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val) rs2108508819
NM_145261.4(DNAJC19):c.210-14_210-11del rs1206803404
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser) rs1218208437
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu) rs2473927655
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe) rs1714880831
NM_145261.4(DNAJC19):c.26G>T (p.Gly9Val) rs2473934105
NM_145261.4(DNAJC19):c.280+4_280+7del rs1714878566
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs) rs761342359
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr) rs2473938607
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr) rs2473924438
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val) rs2108506959
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile) rs1715007911
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys) rs370042988
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg) rs1253268997
NM_145261.4(DNAJC19):c.348del (p.Lys116fs) rs1714802157
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr) rs1715010087
NM_145261.4(DNAJC19):c.55+5G>C rs1454974888
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr) rs2108509645

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