ClinVar Miner

List of variants in gene CCM2 reported as uncertain significance for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.1061G>A (p.Arg354Lys) rs145579135 0.00017
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00011
NM_031443.4(CCM2):c.1091A>G (p.His364Arg) rs201559289 0.00005
NM_031443.4(CCM2):c.665C>T (p.Thr222Met) rs370245890 0.00005
NM_031443.4(CCM2):c.1112C>T (p.Thr371Ile) rs1161125937 0.00001
NM_031443.4(CCM2):c.350C>T (p.Ala117Val) rs368366686 0.00001
NM_031443.4(CCM2):c.1193C>A (p.Ser398Tyr)
NM_031443.4(CCM2):c.1246T>G (p.Ser416Ala) rs1057524745
NM_031443.4(CCM2):c.1268G>C (p.Arg423Pro)
NM_031443.4(CCM2):c.1272G>A (p.Met424Ile)
NM_031443.4(CCM2):c.1333T>G (p.Ter445Gly)
NM_031443.4(CCM2):c.204+8G>A
NM_031443.4(CCM2):c.31-10496C>G
NM_031443.4(CCM2):c.458T>G (p.Val153Gly) rs1798685835
NM_031443.4(CCM2):c.464T>C (p.Leu155Pro) rs1562908094
NM_031443.4(CCM2):c.464T>G (p.Leu155Arg) rs1562908094
NM_031443.4(CCM2):c.468G>C (p.Lys156Asn) rs1554375495
NM_031443.4(CCM2):c.617C>T (p.Ala206Val) rs777710102
NM_031443.4(CCM2):c.811C>A (p.Pro271Thr)
NM_031443.4(CCM2):c.852G>C (p.Lys284Asn)
NM_031443.4(CCM2):c.946del (p.Gln316fs) rs1064795420
NM_031443.4(CCM2):c.976C>T (p.Arg326Cys)

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