ClinVar Miner

List of variants in gene CLN6 reported as pathogenic by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465

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