ClinVar Miner

List of variants reported as likely pathogenic for cerebral lipidosis with dementia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000391.4(TPP1):c.230-2A>G
NM_017882.3(CLN6):c.665+1G>A rs796052356

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