ClinVar Miner

List of variants in gene DNAJC5 studied for Neuronal ceroid lipofuscinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000020.11:g.(?_63928326)_(63931588_?)del
NM_025219.3(DNAJC5):c.107+10C>T rs181906972
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) rs1006274437
NM_025219.3(DNAJC5):c.153G>A (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val) rs754887788
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) rs139312819
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=) rs148585496
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser)
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) rs760881795
NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)
NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=) rs201495666
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) rs149971662
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser) rs1555879996
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu) rs933246467
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.3(DNAJC5):c.319A>C (p.Lys107Gln)
NM_025219.3(DNAJC5):c.321+8C>T rs773607766
NM_025219.3(DNAJC5):c.322-5C>G rs373568941
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) rs141103374
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) rs886043295
NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) rs775067598
NM_025219.3(DNAJC5):c.389A>G (p.Asn130Ser)
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851
NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) rs140326040
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys) rs762961919
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu) rs770758533
NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) rs761982169
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp)
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr) rs766374425
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr) rs753722773

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.