ClinVar Miner

List of variants in gene CLN6 reported as pathogenic by Invitae

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 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.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 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.896C>T (p.Pro299Leu) rs758921701 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.68504037_68504039delGAT rs121908080
NM_017882.3(CLN6):c.121del (p.Ala41fs) rs2141145116
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) rs2141145071
NM_017882.3(CLN6):c.168G>A (p.Trp56Ter)
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.196dup (p.Met66fs) rs2141145023
NM_017882.3(CLN6):c.1A>C (p.Met1Leu)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter)
NM_017882.3(CLN6):c.247dup (p.Asp83fs)
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter)
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
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.395_396del (p.Ser132fs) rs774543080
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.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter)
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.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.66del (p.Ser23fs) rs2093262507
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
NM_017882.3(CLN6):c.739del (p.His247fs)
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter)
NM_017882.3(CLN6):c.872dup (p.Val293fs)
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639

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