ClinVar Miner

List of variants in gene CCM2 reported as benign for not provided

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.804-157T>C rs10272243 0.99996
NM_031443.4(CCM2):c.746-255T>G rs2877305 0.53158
NM_031443.4(CCM2):c.*117T>C rs7804 0.33642
NM_031443.4(CCM2):c.31-10585G>C rs2289365 0.23198
NM_031443.4(CCM2):c.803+330A>G rs58194439 0.22694
NM_031443.4(CCM2):c.1054+217A>G rs2289371 0.22684
NM_031443.4(CCM2):c.473-174A>G rs7788412 0.22681
NM_031443.4(CCM2):c.915+119C>T rs2289369 0.22676
NM_031443.4(CCM2):c.804-286T>C rs56028225 0.22670
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.288+171C>T rs6971403 0.22599
NM_031443.4(CCM2):c.358G>A (p.Val120Ile) rs11552377 0.13068
NM_031443.4(CCM2):c.803+89C>A rs11977608 0.09156
NM_031443.4(CCM2):c.157G>A (p.Val53Ile) rs2107732 0.06147
NM_031443.4(CCM2):c.205-230T>G rs11771822 0.04261
NM_031443.4(CCM2):c.915+173C>T rs17172338 0.03786
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.339C>T (p.Leu113=) rs146259619 0.00032
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00011
NM_031443.4(CCM2):c.*14G>T rs116320627
NM_031443.4(CCM2):c.1054+219C>T rs2289372
NM_031443.4(CCM2):c.31-10835A>G rs1294962
NM_031443.4(CCM2):c.472+127C>T rs73107990

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