ClinVar Miner

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

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Total variants: 24
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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.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.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500468)_(68504211_?)del
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.298-1G>C rs1595818391
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.486+1G>C rs756522171
NM_017882.3(CLN6):c.487-1G>T
NM_017882.3(CLN6):c.542+2T>C
NM_017882.3(CLN6):c.543-2A>G rs2141137336
NM_017882.3(CLN6):c.665+1G>A rs796052356
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.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639

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