ClinVar Miner

List of variants in gene CTSD reported as likely pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.675_704+1dup
NM_001909.5(CTSD):c.68+1G>A
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.704+1G>T
NM_001909.5(CTSD):c.824_827+30del rs2133659840
NM_001909.5(CTSD):c.827+2T>C rs1845791308
NM_001909.5(CTSD):c.828-2A>C
NM_001909.5(CTSD):c.972+1G>C

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