ClinVar Miner

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

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.246C>T (p.Pro82=) rs148244188 0.00183
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.204+37C>T rs368976298 0.00003
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.31-10449G>T
NM_031443.4(CCM2):c.327C>T (p.His109=)
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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