ClinVar Miner

List of variants in gene DNAJC5 reported as likely benign for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00044
NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) rs141103374 0.00013
NM_025219.3(DNAJC5):c.531C>T (p.Ser177=) rs376694698 0.00012
NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) rs149971662 0.00008
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00007
NM_025219.3(DNAJC5):c.243G>A (p.Ser81=) rs532410241 0.00007
NM_025219.3(DNAJC5):c.494-20C>T rs377764458 0.00007
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) rs144915847 0.00006
NM_025219.3(DNAJC5):c.528A>G (p.Ala176=) rs773154613 0.00006
NM_025219.3(DNAJC5):c.231C>T (p.Asp77=) rs766072943 0.00005
NM_025219.3(DNAJC5):c.486C>T (p.Asp162=) rs145468246 0.00005
NM_025219.3(DNAJC5):c.513C>T (p.Ile171=) rs745794091 0.00005
NM_025219.3(DNAJC5):c.52C>G (p.His18Asp) rs780154907 0.00005
NM_025219.3(DNAJC5):c.420G>T (p.Ala140=) rs568985915 0.00004
NM_025219.3(DNAJC5):c.189G>A (p.Ala63=) rs746052000 0.00003
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118 0.00003
NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=) rs749077830 0.00003
NM_025219.3(DNAJC5):c.322-5C>A rs373568941 0.00003
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.18G>A (p.Gln6=) rs148585496 0.00002
NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) rs760881795 0.00002
NM_025219.3(DNAJC5):c.261C>T (p.Ala87=) rs772397861 0.00002
NM_025219.3(DNAJC5):c.322-13C>T rs753758771 0.00002
NM_025219.3(DNAJC5):c.366C>T (p.Cys122=) rs895228886 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=) rs780478210 0.00002
NM_025219.3(DNAJC5):c.453C>T (p.Ser151=) rs1482200561 0.00002
NM_025219.3(DNAJC5):c.510G>A (p.Pro170=) rs369508682 0.00002
NM_025219.3(DNAJC5):c.525G>A (p.Pro175=) rs373237152 0.00002
NM_025219.3(DNAJC5):c.537C>T (p.Thr179=) rs752046563 0.00002
NM_025219.3(DNAJC5):c.54C>T (p.His18=) rs770638590 0.00002
NM_025219.3(DNAJC5):c.558C>T (p.Ala186=) rs755569080 0.00002
NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=) rs775734607 0.00001
NM_025219.3(DNAJC5):c.159C>T (p.Ala53=) rs779503067 0.00001
NM_025219.3(DNAJC5):c.186C>T (p.Asn62=) rs769566622 0.00001
NM_025219.3(DNAJC5):c.192C>T (p.His64=) rs1351269667 0.00001
NM_025219.3(DNAJC5):c.225C>T (p.Ile75=) rs376163421 0.00001
NM_025219.3(DNAJC5):c.25C>T (p.Leu9=) rs1184661048 0.00001
NM_025219.3(DNAJC5):c.297C>T (p.Phe99=) rs776598152 0.00001
NM_025219.3(DNAJC5):c.306C>T (p.Ser102=) rs770247745 0.00001
NM_025219.3(DNAJC5):c.321+14G>A rs367766641 0.00001
NM_025219.3(DNAJC5):c.321+9G>A rs763367010 0.00001
NM_025219.3(DNAJC5):c.322-4C>A rs376221120 0.00001
NM_025219.3(DNAJC5):c.322-7C>T rs765086324 0.00001
NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) rs886043295 0.00001
NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) rs775067598 0.00001
NM_025219.3(DNAJC5):c.360C>T (p.Tyr120=) rs1199900090 0.00001
NM_025219.3(DNAJC5):c.429C>T (p.Gly143=) rs753956759 0.00001
NM_025219.3(DNAJC5):c.46T>C (p.Leu16=) rs371819808 0.00001
NM_025219.3(DNAJC5):c.480G>A (p.Gln160=) rs1358914493 0.00001
NM_025219.3(DNAJC5):c.493+10C>T rs751404516 0.00001
NM_025219.3(DNAJC5):c.493+11G>A rs760774827 0.00001
NM_025219.3(DNAJC5):c.493+20C>A rs1340410388 0.00001
NM_025219.3(DNAJC5):c.494-15G>A rs529414430 0.00001
NM_025219.3(DNAJC5):c.494-17G>A rs1433329405 0.00001
NM_025219.3(DNAJC5):c.494-18T>C rs755327268 0.00001
NM_025219.3(DNAJC5):c.507G>A (p.Thr169=) rs748875387 0.00001
NM_025219.3(DNAJC5):c.555A>G (p.Thr185=) rs1437414625 0.00001
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695 0.00001
NM_025219.3(DNAJC5):c.60T>C (p.Leu20=) rs745419250 0.00001
NM_025219.3(DNAJC5):c.9C>T (p.Asp3=) rs1183745006 0.00001
NM_025219.3(DNAJC5):c.107+15G>A
NM_025219.3(DNAJC5):c.111G>A (p.Lys37=) rs2053641677
NM_025219.3(DNAJC5):c.147C>T (p.Asp49=) rs1015989705
NM_025219.3(DNAJC5):c.150C>T (p.Asn50=) rs963094374
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.168G>A (p.Lys56=) rs1438841329
NM_025219.3(DNAJC5):c.174G>A (p.Lys58=) rs2146305404
NM_025219.3(DNAJC5):c.193G>T (p.Ala65Ser) rs772453351
NM_025219.3(DNAJC5):c.243G>T (p.Ser81=) rs532410241
NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) rs1168791937
NM_025219.3(DNAJC5):c.261C>G (p.Ala87=) rs772397861
NM_025219.3(DNAJC5):c.285G>T (p.Val95=) rs2516797454
NM_025219.3(DNAJC5):c.303G>A (p.Leu101=) rs2516797493
NM_025219.3(DNAJC5):c.321+14G>C
NM_025219.3(DNAJC5):c.321+38_321+63del rs2053644346
NM_025219.3(DNAJC5):c.321+38_321+63dup rs2053644346
NM_025219.3(DNAJC5):c.321+90_321+141del rs2146305682
NM_025219.3(DNAJC5):c.322-15_322-14delinsAC rs2146308175
NM_025219.3(DNAJC5):c.322-17C>T rs2516801376
NM_025219.3(DNAJC5):c.322-18_322-16del rs1410187166
NM_025219.3(DNAJC5):c.322-4C>G rs376221120
NM_025219.3(DNAJC5):c.322-5C>G rs373568941
NM_025219.3(DNAJC5):c.322-9T>A rs2146308196
NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) rs1555880229
NM_025219.3(DNAJC5):c.333C>G (p.Val111=) rs1037164977
NM_025219.3(DNAJC5):c.336C>T (p.Phe112=) rs774665874
NM_025219.3(DNAJC5):c.342C>T (p.Gly114=) rs746279787
NM_025219.3(DNAJC5):c.351G>T (p.Thr117=) rs775067598
NM_025219.3(DNAJC5):c.375G>C (p.Leu125=) rs1158539559
NM_025219.3(DNAJC5):c.399C>T (p.Cys133=)
NM_025219.3(DNAJC5):c.39G>A (p.Gly13=) rs753100030
NM_025219.3(DNAJC5):c.417G>A (p.Lys139=) rs2516801736
NM_025219.3(DNAJC5):c.420G>A (p.Ala140=) rs568985915
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.441G>A (p.Glu147=) rs2516801835
NM_025219.3(DNAJC5):c.483T>A (p.Ser161=) rs2146308564
NM_025219.3(DNAJC5):c.493+11G>C rs760774827
NM_025219.3(DNAJC5):c.493+17G>C rs2053665627
NM_025219.3(DNAJC5):c.493+19G>A rs2053665643
NM_025219.3(DNAJC5):c.493+22del rs546069605
NM_025219.3(DNAJC5):c.493+8C>T rs953814957
NM_025219.3(DNAJC5):c.494-16T>A rs1057521981
NM_025219.3(DNAJC5):c.494-19C>T rs1189139486
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.3(DNAJC5):c.510G>T (p.Pro170=) rs369508682
NM_025219.3(DNAJC5):c.516C>T (p.Val172=) rs2146309323
NM_025219.3(DNAJC5):c.554C>T (p.Thr185Ile) rs2516803778
NM_025219.3(DNAJC5):c.558C>A (p.Ala186=)
NM_025219.3(DNAJC5):c.570C>T (p.Pro190=) rs1349994773
NM_025219.3(DNAJC5):c.57C>T (p.Val19=) rs2053633398
NM_025219.3(DNAJC5):c.585C>T (p.Asp195=)
NM_025219.3(DNAJC5):c.66G>A (p.Leu22=) rs1057523849
NM_025219.3(DNAJC5):c.96A>G (p.Lys32=) rs2146303986
NM_025219.3(DNAJC5):c.99G>A (p.Lys33=) rs2146303993

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