ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 6

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Total variants: 19
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NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441
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.83+2T>G rs1555440188
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>A (p.Pro299His)
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701

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