ClinVar Miner

List of variants in gene CCM2 reported as uncertain significance for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn) rs41280666 0.00019
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.160G>A (p.Glu54Lys) rs759104121 0.00004
NM_031443.4(CCM2):c.883G>A (p.Ala295Thr) rs762020337 0.00004
NM_031443.4(CCM2):c.556G>A (p.Ala186Thr) rs758091168 0.00002
NM_031443.4(CCM2):c.221C>T (p.Thr74Met) rs750771937 0.00001
NM_031443.4(CCM2):c.589A>C (p.Ile197Leu) rs1798899357 0.00001
NM_031443.4(CCM2):c.744C>T (p.Ser248=) rs1240228560 0.00001
NM_031443.4(CCM2):c.830G>A (p.Gly277Asp) rs1421166194 0.00001
NM_031443.4(CCM2):c.989C>T (p.Ser330Phe) rs779374000 0.00001
NM_031443.4(CCM2):c.1115T>C (p.Ile372Thr)
NM_031443.4(CCM2):c.1120G>A (p.Val374Met) rs200669376
NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala) rs368380083
NM_031443.4(CCM2):c.1201A>G (p.Asn401Asp)
NM_031443.4(CCM2):c.1252G>A (p.Gly418Arg)
NM_031443.4(CCM2):c.193_195del (p.Lys65del) rs1797329314
NM_031443.4(CCM2):c.204+3A>C
NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)
NM_031443.4(CCM2):c.317C>T (p.Thr106Ile) rs1798672293
NM_031443.4(CCM2):c.344T>G (p.Leu115Arg) rs2128747658
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro) rs1562907616
NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)
NM_031443.4(CCM2):c.419C>A (p.Ala140Asp) rs1208759821
NM_031443.4(CCM2):c.424G>A (p.Val142Ile)
NM_031443.4(CCM2):c.428_430del (p.Ser143del) rs1562907973
NM_031443.4(CCM2):c.434T>G (p.Val145Gly)
NM_031443.4(CCM2):c.436C>T (p.Arg146Trp)
NM_031443.4(CCM2):c.438G>A (p.Arg146=) rs1280936139
NM_031443.4(CCM2):c.487A>G (p.Ile163Val)
NM_031443.4(CCM2):c.526G>A (p.Gly176Ser) rs2128749861
NM_031443.4(CCM2):c.559G>T (p.Val187Phe)
NM_031443.4(CCM2):c.617C>A (p.Ala206Glu) rs777710102
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro) rs1583983649
NM_031443.4(CCM2):c.677T>G (p.Ile226Ser)
NM_031443.4(CCM2):c.679G>A (p.Asp227Asn) rs770430978
NM_031443.4(CCM2):c.698T>C (p.Ile233Thr) rs1798975615
NM_031443.4(CCM2):c.766G>A (p.Asp256Asn)
NM_031443.4(CCM2):c.806G>T (p.Cys269Phe) rs2128752334
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)
NM_031443.4(CCM2):c.992T>C (p.Ile331Thr)

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