ClinVar Miner

List of variants studied for cerebral cavernous malformation by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.31-10585G>C rs2289365 0.23198
NM_031443.4(CCM2):c.915G>A (p.Thr305=) rs2289367 0.22659
NM_031443.4(CCM2):c.358G>A (p.Val120Ile) rs11552377 0.13068
NM_031443.4(CCM2):c.157G>A (p.Val53Ile) rs2107732 0.06147
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter) rs771656368
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs) rs1554490317

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