ClinVar Miner

List of variants reported as likely pathogenic for Cerebral cavernous malformation

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Total variants: 11
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NM_001029835.2(CCM2):c.701T>C (p.Leu234Pro) rs1583983649
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter)
NM_194456.1(KRIT1):c.1147-13C>G rs779465895
NM_194456.1(KRIT1):c.1400C>T (p.Ser467Leu) rs1554513911
NM_194456.1(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_194456.1(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194456.1(KRIT1):c.896del (p.Gly299fs) rs1563301954
Single allele

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