ClinVar Miner

List of variants reported as benign for cerebral cavernous malformation by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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.358G>A (p.Val120Ile) rs11552377 0.13068
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
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_194454.3(KRIT1):c.2044A>C (p.Lys682Gln) rs138763545 0.00264
NM_031443.4(CCM2):c.1054+12C>T rs190686229 0.00243
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_031443.4(CCM2):c.804-5C>T rs145003686 0.00232
NM_194454.3(KRIT1):c.846-5dup rs373763254 0.00219
NM_031443.4(CCM2):c.804-9C>G rs150362858 0.00201
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00194
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_031443.4(CCM2):c.246C>T (p.Pro82=) rs148244188 0.00183
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
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_194454.3(KRIT1):c.1819-12G>C rs199748245 0.00097
NM_194454.3(KRIT1):c.1146+8A>T rs182762651 0.00093
NM_194454.3(KRIT1):c.2046G>A (p.Lys682=) rs144960332 0.00080
NM_007217.4(PDCD10):c.474+9A>G rs367568906 0.00074
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=) rs145605400 0.00054
NM_194454.3(KRIT1):c.2085T>A (p.Thr695=) rs149437256 0.00051
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_194454.3(KRIT1):c.1809T>C (p.His603=) rs149754162 0.00011
NM_031443.4(CCM2):c.915+11G>A rs2289368 0.00007
NM_031443.4(CCM2):c.1203T>C (p.Asn401=) rs367740781 0.00006
NM_007217.4(PDCD10):c.151-14del
NM_007217.4(PDCD10):c.214G>C (p.Val72Leu) rs562763010
NM_007217.4(PDCD10):c.475-11del rs1396270491
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)
NM_194454.3(KRIT1):c.1147-20dup

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