ClinVar Miner

List of variants studied for adult neuronal ceroid lipofuscinosis by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) rs2141138753
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260

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