ClinVar Miner

List of variants in gene CLN6 reported as pathogenic for Neuronal ceroid lipofuscinosis 6

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Total variants: 21
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.511_513TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.791_793CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322

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