ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 5 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00321
NM_145261.4(DNAJC19):c.281-12T>C rs141982712 0.00127
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=) rs373886730 0.00044
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00024
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) rs376891597 0.00016
NM_145261.4(DNAJC19):c.3+16C>T rs367841424 0.00013
NM_145261.4(DNAJC19):c.129+15A>C rs201697391 0.00010
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr) rs757569013 0.00007
NM_145261.4(DNAJC19):c.280+2dup rs756616792 0.00007
NM_145261.4(DNAJC19):c.210-7T>A rs779367415 0.00006
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488 0.00004
NM_145261.4(DNAJC19):c.280+1G>A rs774006022 0.00004
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=) rs766348961 0.00003
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.210-17T>C rs750700018 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.90G>A (p.Glu30=) rs367996239 0.00002
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=) rs1400868784 0.00001
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=) rs2473933568 0.00001
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=) rs1476161168 0.00001
NM_145261.4(DNAJC19):c.129+11G>T rs546533068 0.00001
NM_145261.4(DNAJC19):c.130-1G>C rs137854888 0.00001
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser) rs781284254 0.00001
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=) rs1714944777 0.00001
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=) rs751736236 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.210-12T>A rs1203551473 0.00001
NM_145261.4(DNAJC19):c.210-18A>G rs758730746 0.00001
NM_145261.4(DNAJC19):c.210-19C>T rs780397593 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.280+15A>C rs1714878433 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.348A>G (p.Lys116=) rs771098271 0.00001
NM_145261.4(DNAJC19):c.4-1G>A rs878852999 0.00001
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val) rs1419296050 0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter) rs1560040369 0.00001
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg) rs776130966 0.00001
NM_145261.4(DNAJC19):c.84T>C (p.His28=) rs768399273 0.00001
NC_000003.11:g.(?_180332709)_(180707390_?)del
NC_000003.11:g.(?_180707368)_(180707390_?)del
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del) rs1390438286
NM_145261.4(DNAJC19):c.122del (p.Pro41fs)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C rs771851624
NM_145261.4(DNAJC19):c.132C>G (p.Ala44=)
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.168dup (p.Lys57fs)
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.209+11C>T rs374496383
NM_145261.4(DNAJC19):c.209+19T>C rs2473930142
NM_145261.4(DNAJC19):c.210-14_210-11del rs1206803404
NM_145261.4(DNAJC19):c.210-14_210-13del rs757422860
NM_145261.4(DNAJC19):c.210-2A>G rs2473927704
NM_145261.4(DNAJC19):c.210-4T>C rs2473927709
NM_145261.4(DNAJC19):c.219C>T (p.Ala73=)
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser) rs1218208437
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter) rs764568129
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe) rs1714880831
NM_145261.4(DNAJC19):c.263del (p.Leu87_Leu88insTer)
NM_145261.4(DNAJC19):c.280+16A>T rs773185733
NM_145261.4(DNAJC19):c.280+19C>A rs1203314065
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.280+4_280+7del rs1714878566
NM_145261.4(DNAJC19):c.281-15T>G rs3026210
NM_145261.4(DNAJC19):c.281-15dup rs764813798
NM_145261.4(DNAJC19):c.281-16_281-15del
NM_145261.4(DNAJC19):c.281-21_281-19del rs1714811182
NM_145261.4(DNAJC19):c.281-21_281-20del rs1465582863
NM_145261.4(DNAJC19):c.281-4A>G rs1256818835
NM_145261.4(DNAJC19):c.281-5T>A rs766954639
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=) rs2108506993
NM_145261.4(DNAJC19):c.28C>T (p.Leu10=)
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=) rs1341031598
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs) rs761342359
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr) rs2473938607
NM_145261.4(DNAJC19):c.3+11C>A
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.3+7G>T
NM_145261.4(DNAJC19):c.30G>C (p.Leu10=)
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.4-24_15del rs772236610
NM_145261.4(DNAJC19):c.45A>G (p.Ala15=)
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr) rs1715010087
NM_145261.4(DNAJC19):c.51del (p.Phe17fs) rs1715007577
NM_145261.4(DNAJC19):c.55+10T>C rs772260835
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145261.4(DNAJC19):c.55+20A>T rs1577025780
NM_145261.4(DNAJC19):c.55+5G>C rs1454974888
NM_145261.4(DNAJC19):c.56-17G>C rs2473933857
NM_145261.4(DNAJC19):c.56-7G>T rs2473933827
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=) rs2473933822
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=) rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr) rs2108509645

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