ClinVar Miner

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

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Total variants: 9
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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.804-9C>G rs150362858 0.00201
NM_031443.4(CCM2):c.1260G>A (p.Glu420=) rs2304691 0.00136

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