ClinVar Miner

List of variants in gene CLN6 reported as likely pathogenic for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 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.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.199-2A>G rs1471253353 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500468)_(68504211_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.195dup (p.Met66fs)
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) rs2093214695
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
NM_017882.3(CLN6):c.298-1G>C rs1595818391
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) rs2093205953
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.486+1G>C rs756522171
NM_017882.3(CLN6):c.487-1G>T
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) rs2093204342
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) rs2141138753
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.542+2T>C
NM_017882.3(CLN6):c.543-2A>G rs2141137336
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) rs2141135900
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>A (p.Pro299His) rs758921701

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