ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.544-227A>G rs3935479 0.07779
NM_018941.4(CLN8):c.544-124T>C rs12546965 0.07202
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00899
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00066
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00019
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00013
NM_018941.4(CLN8):c.599T>C (p.Met200Thr) rs368646951 0.00011
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) rs143694317 0.00005
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00005
NM_018941.4(CLN8):c.523G>A (p.Val175Ile) rs768139689 0.00005
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 0.00004
NM_018941.4(CLN8):c.332C>T (p.Thr111Met) rs778188757 0.00004
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln) rs571617007 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser) rs201956727 0.00004
NM_018941.4(CLN8):c.206C>T (p.Thr69Met) rs776409703 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00003
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys) rs778435359 0.00003
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser) rs137852883 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 0.00003
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr) rs200999640 0.00002
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg) rs919541697 0.00002
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg) rs1432496931 0.00002
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys) rs1285178214 0.00002
NM_018941.4(CLN8):c.411C>G (p.Ile137Met) rs147224140 0.00002
NM_018941.4(CLN8):c.543+1G>T rs756267448 0.00002
NM_018941.4(CLN8):c.598A>G (p.Met200Val) rs749595247 0.00002
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln) rs749774943 0.00002
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu) rs201670636 0.00001
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys) rs769069643 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.1A>G (p.Met1Val) rs143730802 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr) rs998922998 0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.323C>T (p.Thr108Met) rs143701028 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.416A>G (p.His139Arg) rs1195769874 0.00001
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.509C>T (p.Thr170Met) rs188259026 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018941.4(CLN8):c.716C>T (p.Ala239Val) rs913988013 0.00001
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg) rs1358513612 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NC_000008.10:g.(?_1711954)_(1734737_?)del
NM_018941.3(CLN8):c.[208C>T;792C>G]
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]
NM_018941.4(CLN8):c.-123-1G>C rs1554448791
NM_018941.4(CLN8):c.-131_-124+13del rs1554446821
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.16G>C (p.Asp6His) rs200999640
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn) rs143918546
NM_018941.4(CLN8):c.280G>C (p.Asp94His) rs143918546
NM_018941.4(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys) rs755831055
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr) rs1198837795
NM_018941.4(CLN8):c.37A>G (p.Ile13Val) rs1563107126
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu) rs1801301214
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.424dup (p.Ala142fs) rs2486442031
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter) rs758707781
NM_018941.4(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.4(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg) rs1184115888
NM_018941.4(CLN8):c.544-1G>T rs2486488212
NM_018941.4(CLN8):c.544-2A>G rs1554451484
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.4(CLN8):c.593_596dup (p.Met200fs) rs1801672516
NM_018941.4(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.4(CLN8):c.601T>A (p.Phe201Ile) rs2486488760
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg) rs2486488805
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.4(CLN8):c.631A>G (p.Met211Val) rs745785480
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del) rs386834135
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) rs104894064
NM_018941.4(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.4(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.4(CLN8):c.781G>A (p.Val261Met) rs1482950665
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.812A>G (p.Lys271Arg) rs914759366
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139

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.