ClinVar Miner

List of variants in gene CLN6 reported as pathogenic for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) rs752212030 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.(?_68499209)_(68500605_?)del
NC_000015.9:g.(?_68503591)_(68506736_?)del
NC_000015.9:g.(?_68510854)_(68511008_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.121del (p.Ala41fs) rs2141145116
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) rs2141145071
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.180_181del (p.Phe60fs)
NM_017882.3(CLN6):c.180dup (p.Gly61fs)
NM_017882.3(CLN6):c.183del (p.Arg62fs)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.196dup (p.Met66fs) rs2141145023
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) rs2141141533
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs) rs2141141420
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.342C>A (p.Tyr114Ter)
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del) rs1401381423
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.396dup (p.Val133fs) rs2141139300
NM_017882.3(CLN6):c.397_398del (p.Val133fs) rs766493088
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.407del (p.Arg136fs)
NM_017882.3(CLN6):c.424dup (p.Tyr142fs)
NM_017882.3(CLN6):c.426C>G (p.Tyr142Ter)
NM_017882.3(CLN6):c.456del (p.Ile153fs)
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.516T>A (p.Tyr172Ter)
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter) rs1380684360
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer)
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.583_596del (p.Gly195fs) rs2093199030
NM_017882.3(CLN6):c.601A>T (p.Lys201Ter)
NM_017882.3(CLN6):c.655del (p.Leu219fs) rs2141137200
NM_017882.3(CLN6):c.658_665del (p.Tyr220fs)
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.66del (p.Ser23fs) rs2093262507
NM_017882.3(CLN6):c.685C>T (p.Gln229Ter)
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.739del (p.His247fs)
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
NM_017882.3(CLN6):c.829_836delinsCCT (p.Val277fs)
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_017882.3(CLN6):c.872dup (p.Val293fs)
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639

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