ClinVar Miner

List of variants studied for brain aneurysm

Included ClinVar conditions (3):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp) rs183800704 0.00319
NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys) rs146221635 0.00273
NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu) rs182064759 0.00228
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_002486.5(NCBP1):c.373G>A (p.Val125Met) rs143745791 0.00132
NM_001001662.3(ZNF782):c.962G>A (p.Arg321His) rs146058964
NM_001267571.2(TBC1D2):c.2261C>A (p.Thr754Lys) rs774546155
NM_018676.4(THSD1):c.1021+5G>A
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) rs1594095223

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