ClinVar Miner

List of variants reported as likely pathogenic for Cerebral cavernous malformation

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Total variants: 6
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HGVS dbSNP
NM_194456.1(KRIT1):c.144_145GA[1] (p.Arg49fs) rs1057518665
NM_194456.1(KRIT1):c.1574del (p.Pro525fs)
NM_194456.1(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194456.1(KRIT1):c.2143-1G>A rs1554489785
NM_194456.1(KRIT1):c.896del (p.Gly299fs) rs1563301954
Single allele

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