ClinVar Miner

List of variants studied for cerebral cavernous malformation by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter) rs777198867 0.00001
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs) rs886039400
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199

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