ClinVar Miner

List of variants in gene CCM2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.915G>A (p.Thr305=) rs2289367 0.22659
NM_031443.4(CCM2):c.205-36A>G rs2304689 0.22651
NM_031443.4(CCM2):c.358G>A (p.Val120Ile) rs11552377 0.13068
NM_031443.4(CCM2):c.157G>A (p.Val53Ile) rs2107732 0.06147
NM_031443.4(CCM2):c.351G>A (p.Ala117=) rs35888291 0.03813
NM_031443.4(CCM2):c.384G>A (p.Glu128=) rs73694268 0.01100
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_031443.4(CCM2):c.*6A>G rs144650652 0.00261
NM_031443.4(CCM2):c.804-5C>T rs145003686 0.00232
NM_031443.4(CCM2):c.804-9C>G rs150362858 0.00201
NM_031443.4(CCM2):c.246C>T (p.Pro82=) rs148244188 0.00183
NM_031443.4(CCM2):c.1260G>A (p.Glu420=) rs2304691 0.00136
NM_031443.4(CCM2):c.636G>C (p.Leu212=) rs150076154 0.00131
NM_031443.4(CCM2):c.735C>T (p.Ser245=) rs199682975 0.00053
NM_031443.4(CCM2):c.1284C>T (p.Ile428=) rs144918172 0.00020
NM_031443.4(CCM2):c.222G>A (p.Thr74=) rs375331762 0.00014
NM_031443.4(CCM2):c.720G>A (p.Pro240=) rs534266433 0.00013
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00011
NM_031443.4(CCM2):c.204+37C>T rs368976298 0.00003
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031443.4(CCM2):c.*14G>T rs116320627
NM_031443.4(CCM2):c.*15G>A rs200969851
NM_031443.4(CCM2):c.*19dup
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) rs767248510
NM_031443.4(CCM2):c.1234dup (p.Arg412fs) rs1331484727
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.134_135del (p.Val45fs) rs1562881980
NM_031443.4(CCM2):c.160G>T (p.Glu54Ter)
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.289-19_352del rs1562907331
NM_031443.4(CCM2):c.289-1G>A rs1562907365
NM_031443.4(CCM2):c.289-1G>T rs1562907365
NM_031443.4(CCM2):c.298del (p.Gln100fs) rs1204653825
NM_031443.4(CCM2):c.31-10449G>T
NM_031443.4(CCM2):c.31-3C>A rs1562881764
NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer) rs1562907455
NM_031443.4(CCM2):c.327C>T (p.His109=)
NM_031443.4(CCM2):c.418G>A (p.Ala140Thr)
NM_031443.4(CCM2):c.447del (p.Ala150fs)
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.586del (p.Val196fs) rs1562912441
NM_031443.4(CCM2):c.609G>A (p.Lys203=) rs1562912528
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_031443.4(CCM2):c.790del (p.Glu264fs) rs1562917629
NM_031443.4(CCM2):c.79_80del (p.Lys26_Ser27insTer) rs1562881859
NM_031443.4(CCM2):c.810C>G (p.Phe270Leu) rs752378325
NM_031443.4(CCM2):c.894G>C (p.Leu298=)
NM_031443.4(CCM2):c.915+10C>T
NM_031443.4(CCM2):c.916-7C>G rs551511374
NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)

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