ClinVar Miner

List of variants in gene CLN8 reported as pathogenic for hereditary dementia

Included ClinVar conditions (238):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
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.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter) rs750162094 0.00001
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter) rs1454175058 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NC_000008.10:g.(?_1719221)_(1719783_?)del
NC_000008.10:g.(?_1728396)_(1728733_?)del
NC_000008.11:g.(?_1771035)_(1780587_?)del
NC_000008.11:g.(?_1771045)_(1780577_?)del
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter) rs2130990601
NM_018941.4(CLN8):c.109_112dup (p.Val38fs)
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter) rs192196274
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter) rs2130990747
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)
NM_018941.4(CLN8):c.160del (p.Arg54fs)
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.191G>A (p.Trp64Ter)
NM_018941.4(CLN8):c.1A>T (p.Met1Leu)
NM_018941.4(CLN8):c.1del (p.Met1*)
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.237del (p.Ala80fs)
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter) rs1801297484
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.315del (p.His106fs)
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.424dup (p.Ala142fs)
NM_018941.4(CLN8):c.429_432del (p.Phe143fs) rs759598033
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)
NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter) rs1801309834
NM_018941.4(CLN8):c.543+1G>A rs756267448
NM_018941.4(CLN8):c.548del (p.Gly183fs)
NM_018941.4(CLN8):c.551G>A (p.Trp184Ter)
NM_018941.4(CLN8):c.555del (p.Glu186fs)
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.593_596dup (p.Met200fs) rs1801672516
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter) rs2129015230
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)
NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)
NM_018941.4(CLN8):c.703del (p.Val236fs) rs761621368
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter) rs878855053
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139

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