ClinVar Miner

List of variants in gene DNAJB2 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006736.6(DNAJB2):c.66-14C>T rs2276638 0.26148
NM_006736.6(DNAJB2):c.230-10G>A rs3731897 0.16060
NM_006736.6(DNAJB2):c.446-8G>A rs3821039 0.10187
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg) rs34127289 0.01163
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455 0.00175
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_006736.6(DNAJB2):c.717C>A (p.Thr239=) rs146703240 0.00067
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) rs140805390 0.00058
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702 0.00038
NM_006736.6(DNAJB2):c.65+15A>T rs140751061 0.00016
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_006736.6(DNAJB2):c.561C>T (p.Asn187=) rs143245353 0.00008
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00007
NM_006736.6(DNAJB2):c.66-4G>A rs753872606 0.00007
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn) rs746079387 0.00006
NM_006736.6(DNAJB2):c.352+8G>C rs989258467 0.00006
NM_006736.6(DNAJB2):c.675G>A (p.Pro225=) rs61758420 0.00005
NM_006736.6(DNAJB2):c.705G>A (p.Gln235=) rs752273176 0.00005
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.446-9C>T rs375051736 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.353-12T>A rs752999271 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=) rs376137700 0.00003
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) rs770788678 0.00003
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=) rs762593270 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.230-15A>C rs776440511 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.360G>A (p.Leu120=) rs748939785 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.548+14C>T rs893873016 0.00002
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) rs369758068 0.00002
NM_006736.6(DNAJB2):c.549-9C>T rs542308257 0.00002
NM_006736.6(DNAJB2):c.620-19G>A rs1294521496 0.00002
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) rs775630178 0.00002
NM_006736.6(DNAJB2):c.*980C>T rs753824788 0.00001
NM_006736.6(DNAJB2):c.*981G>A rs1295474654 0.00001
NM_006736.6(DNAJB2):c.147G>A (p.Val49=) rs1213188397 0.00001
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) rs748638654 0.00001
NM_006736.6(DNAJB2):c.175+10G>A rs772494708 0.00001
NM_006736.6(DNAJB2):c.175+13G>T rs375470108 0.00001
NM_006736.6(DNAJB2):c.175+9C>T rs776887529 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.229+9A>C rs754628028 0.00001
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) rs763649673 0.00001
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376 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.297C>T (p.Pro99=) rs373432472 0.00001
NM_006736.6(DNAJB2):c.303G>A (p.Glu101=) rs376497742 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.353-4G>A rs368270286 0.00001
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp) rs373229634 0.00001
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) rs778575500 0.00001
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter) rs1182614290 0.00001
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val) rs1340065979 0.00001
NM_006736.6(DNAJB2):c.420C>T (p.Phe140=) rs929490670 0.00001
NM_006736.6(DNAJB2):c.429C>T (p.Ser143=) rs371047447 0.00001
NM_006736.6(DNAJB2):c.438G>C (p.Gly146=) rs763259212 0.00001
NM_006736.6(DNAJB2):c.441C>T (p.His147=) rs1346857510 0.00001
NM_006736.6(DNAJB2):c.446-17C>G rs760786001 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.620-22_620-20del rs1064795998 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
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln) rs778963579 0.00001
NC_000002.11:g.(?_220144556)_(220150719_?)dup
NM_006736.6(DNAJB2):c.*988C>T
NM_006736.6(DNAJB2):c.*990C>G rs754902866
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs) rs2125081805
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.168G>C (p.Leu56=)
NM_006736.6(DNAJB2):c.175+11G>T
NM_006736.6(DNAJB2):c.175+19C>G
NM_006736.6(DNAJB2):c.175+9C>G rs776887529
NM_006736.6(DNAJB2):c.176-10_176-9del
NM_006736.6(DNAJB2):c.176-20G>A
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.204T>G (p.Tyr68Ter) rs2125082259
NM_006736.6(DNAJB2):c.208C>A (p.Arg70=) rs773179867
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=) rs2125082264
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.229+8G>T rs1181656151
NM_006736.6(DNAJB2):c.230-19C>G
NM_006736.6(DNAJB2):c.230-4C>A
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile) rs1951908601
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
NM_006736.6(DNAJB2):c.237C>T (p.Gly79=) rs1408021796
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) rs576205050
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=) rs767774707
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.310del (p.Arg104fs) rs879253868
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu) rs1349202271
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)
NM_006736.6(DNAJB2):c.353-1G>C
NM_006736.6(DNAJB2):c.363C>G (p.Gly121=)
NM_006736.6(DNAJB2):c.366C>T (p.Pro122=)
NM_006736.6(DNAJB2):c.369C>T (p.Phe123=)
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
NM_006736.6(DNAJB2):c.405C>T (p.Gly135=)
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala) rs1951918459
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del) rs916480780
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=) rs770337874
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=) rs1235987345
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) rs1223035732
NM_006736.6(DNAJB2):c.445+11C>T
NM_006736.6(DNAJB2):c.445+17C>T
NM_006736.6(DNAJB2):c.445+1G>A
NM_006736.6(DNAJB2):c.445+8C>T rs1553575245
NM_006736.6(DNAJB2):c.445+9T>A rs2125082819
NM_006736.6(DNAJB2):c.446-1G>A rs2125082935
NM_006736.6(DNAJB2):c.446-2A>G rs758322672
NM_006736.6(DNAJB2):c.446-3C>T rs1951921657
NM_006736.6(DNAJB2):c.446-4C>A rs1574901171
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.459A>C (p.Ser153=)
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.507A>C (p.Thr169=)
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+13T>G
NM_006736.6(DNAJB2):c.548+19G>C
NM_006736.6(DNAJB2):c.548+4A>G
NM_006736.6(DNAJB2):c.548+5G>A rs1951923213
NM_006736.6(DNAJB2):c.548+7G>C rs1559286820
NM_006736.6(DNAJB2):c.549-4A>G rs548673998
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.582G>A (p.Val194=)
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln) rs2125083127
NM_006736.6(DNAJB2):c.619+16C>T
NM_006736.6(DNAJB2):c.619+8G>A
NM_006736.6(DNAJB2):c.620-6T>C
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.639A>G (p.Ala213=)
NM_006736.6(DNAJB2):c.63G>A (p.Lys21=) rs970821372
NM_006736.6(DNAJB2):c.640C>T (p.Leu214=)
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)
NM_006736.6(DNAJB2):c.645C>T (p.Gly215=)
NM_006736.6(DNAJB2):c.65+10T>G
NM_006736.6(DNAJB2):c.65+12C>T
NM_006736.6(DNAJB2):c.65+1G>A
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.66-11A>G
NM_006736.6(DNAJB2):c.66-16C>T
NM_006736.6(DNAJB2):c.66-18T>C
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=) rs377593022
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys) rs1951895139
NM_006736.6(DNAJB2):c.693T>G (p.Ser231=) rs2125083703
NM_006736.6(DNAJB2):c.708C>T (p.Val236=) rs762345246
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.723C>T (p.Ala241=) rs891313732
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)
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.741C>T (p.Ser247=)
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His) rs1403156116
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=) rs2125083748
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys) rs1018405924
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.819C>T (p.Pro273=)
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.839A>G (p.Gln280Arg)
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) rs1951895452
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.