ClinVar Miner

List of variants in gene CTSF reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277

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