ClinVar Miner

List of variants reported as likely pathogenic for Cerebral cavernous malformation

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_91851196)_(91852312_?)del
NC_000007.13:g.(?_91864697)_(91867093_?)dup
NM_031443.4(CCM2):c.400del (p.Val134fs) rs2128747719
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro) rs1583983649
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) rs1554513911
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1564-2A>T
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_194454.3(KRIT1):c.1721_1730+5del
NM_194454.3(KRIT1):c.1730+3A>C rs1563244629
NM_194454.3(KRIT1):c.1818+1G>A rs2131315805
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs) rs2131307878
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194454.3(KRIT1):c.2134del (p.Thr712fs) rs2131087593
NM_194454.3(KRIT1):c.2142+1G>C rs1790081665
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_194454.3(KRIT1):c.486-1G>T
NM_194454.3(KRIT1):c.729+5G>C rs1468613071
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)
NM_194454.3(KRIT1):c.896del (p.Gly299fs) rs1563301954
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)

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