ClinVar Miner

List of variants reported as benign for cerebral cavernous malformation 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.31-10585G>C rs2289365 0.23198
NM_031443.4(CCM2):c.915G>A (p.Thr305=) rs2289367 0.22659
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.984G>A (p.Gly328=) rs112504276 0.00732
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_031443.4(CCM2):c.804-12del rs533909649 0.00408
NM_031443.4(CCM2):c.1054+12C>T rs190686229 0.00243
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.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_031443.4(CCM2):c.803+17C>G rs374335278 0.00106
NM_031443.4(CCM2):c.1055-6C>T rs187505526 0.00104
NM_031443.4(CCM2):c.339C>T (p.Leu113=) rs146259619 0.00032
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.915+11G>A rs2289368 0.00007
NM_031443.4(CCM2):c.1203T>C (p.Asn401=) rs367740781 0.00006
NM_031443.4(CCM2):c.609+18C>A
NM_031443.4(CCM2):c.916-7C>G rs551511374
NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)

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