ClinVar Miner

List of variants reported as pathogenic for cerebral cavernous malformation by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter) rs1719762092
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1854dup (p.His619fs) rs1793298143
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169

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