ClinVar Miner

List of variants in gene DNAJB2 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.561C>T (p.Asn187=) rs143245353 0.00008
NM_006736.6(DNAJB2):c.66-4G>A rs753872606 0.00007
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.446-9C>T rs375051736 0.00004
NM_006736.6(DNAJB2):c.353-12T>A rs752999271 0.00003
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=) rs376137700 0.00003
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=) rs762593270 0.00003
NM_006736.6(DNAJB2):c.230-15A>C rs776440511 0.00002
NM_006736.6(DNAJB2):c.360G>A (p.Leu120=) rs748939785 0.00002
NM_006736.6(DNAJB2):c.548+14C>T rs893873016 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.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.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.229+9A>C rs754628028 0.00001
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376 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.353-4G>A rs368270286 0.00001
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp) rs373229634 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.620-22_620-20del rs1064795998 0.00001
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln) rs778963579 0.00001
NM_006736.6(DNAJB2):c.*988C>T
NM_006736.6(DNAJB2):c.*990C>G rs754902866
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.208C>A (p.Arg70=) rs773179867
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=) rs2125082264
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)
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.237C>T (p.Gly79=) rs1408021796
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=) rs767774707
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)
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.405C>T (p.Gly135=)
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=) rs770337874
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=) rs1235987345
NM_006736.6(DNAJB2):c.445+11C>T
NM_006736.6(DNAJB2):c.445+17C>T
NM_006736.6(DNAJB2):c.445+8C>T rs1553575245
NM_006736.6(DNAJB2):c.445+9T>A rs2125082819
NM_006736.6(DNAJB2):c.446-4C>A rs1574901171
NM_006736.6(DNAJB2):c.459A>C (p.Ser153=)
NM_006736.6(DNAJB2):c.507A>C (p.Thr169=)
NM_006736.6(DNAJB2):c.548+13T>G
NM_006736.6(DNAJB2):c.548+19G>C
NM_006736.6(DNAJB2):c.548+7G>C rs1559286820
NM_006736.6(DNAJB2):c.549-4A>G rs548673998
NM_006736.6(DNAJB2):c.582G>A (p.Val194=)
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.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.645C>T (p.Gly215=)
NM_006736.6(DNAJB2):c.65+10T>G
NM_006736.6(DNAJB2):c.66-11A>G
NM_006736.6(DNAJB2):c.66-16C>T
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=) rs377593022
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.723C>T (p.Ala241=) rs891313732
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)
NM_006736.6(DNAJB2):c.741C>T (p.Ser247=)
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=) rs2125083748
NM_006736.6(DNAJB2):c.819C>T (p.Pro273=)
NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)

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