ClinVar Miner

List of variants reported as pathogenic for adult neuronal ceroid lipofuscinosis by Mendelics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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
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

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