ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NC_000015.9:g.(?_68500458)_(68504221_?)del
NM_017882.3(CLN6):c.199-2A>G
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_017882.3(CLN6):c.486+1G>C
NM_017882.3(CLN6):c.543-2A>G
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474

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