ClinVar Miner

List of variants in gene DNAJB2 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn) rs746079387 0.00006
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln) rs766183158 0.00004
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro) rs1247249384 0.00004
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln) rs145429721 0.00004
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) rs200554674 0.00004
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp) rs776893562 0.00004
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977 0.00004
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His) rs375536235 0.00004
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys) rs949341803 0.00003
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro) rs576205050 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) rs770788678 0.00003
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys) rs761058767 0.00002
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg) rs1367297130 0.00002
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn) rs1314160406 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser) rs757308369 0.00002
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu) rs770337874 0.00002
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys) rs777721164 0.00002
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys) rs1055176141 0.00002
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) rs369758068 0.00002
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) rs748638654 0.00001
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp) rs747378005 0.00001
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp) rs773179867 0.00001
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) rs763649673 0.00001
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg) rs1951909003 0.00001
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His) rs545130842 0.00001
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala) rs763591754 0.00001
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp) rs541289584 0.00001
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) rs778575500 0.00001
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val) rs1340065979 0.00001
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val) rs755622620 0.00001
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile) rs780605624 0.00001
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His) rs769095774 0.00001
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His) rs762985004 0.00001
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His) rs202123709 0.00001
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr) rs1487966162 0.00001
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile) rs752078357 0.00001
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His) rs769850234 0.00001
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys) rs201861589 0.00001
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys) rs750175376 0.00001
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn) rs1442415535 0.00001
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln) rs1018405924 0.00001
NC_000002.11:g.(?_220144556)_(220150719_?)dup
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys) rs1322194084
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val) rs1165402332
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr) rs746079387
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del) rs749724691
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly) rs140172586
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys) rs140172586
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile) rs1951908601
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) rs576205050
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys) rs1951909330
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly) rs1233939998
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu) rs1349202271
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala) rs1951918459
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del) rs916480780
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) rs1223035732
NM_006736.6(DNAJB2):c.446-3C>T rs1951921657
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser) rs1951921696
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro) rs1951921760
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg) rs1951922090
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr) rs2125081450
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe) rs1951922399
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe) rs2125082980
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg) rs1559286796
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys) rs1415279774
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala) rs1317732158
NM_006736.6(DNAJB2):c.548+4A>G
NM_006736.6(DNAJB2):c.548+5G>A rs1951923213
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile) rs1574901375
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln) rs2125083127
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser) rs769946182
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup) rs1016678138
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)
NM_006736.6(DNAJB2):c.65+12C>T
NM_006736.6(DNAJB2):c.65+5G>T
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser) rs373611775
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu) rs1357690630
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys) rs1951895139
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp) rs370819068
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln) rs780839621
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser) rs749436734
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly) rs2125083744
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His) rs1403156116
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val) rs769533786
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr) rs762419182
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=) rs1574902248
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu) rs753991111
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp) rs755166275
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)

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