ClinVar Miner

List of variants reported as likely benign for cerebral lipidosis with dementia by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323

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