ClinVar Miner

List of variants reported as uncertain significance for cerebral arterial disease by Brain Center Rudolf Magnus, University Medical Center Utrecht

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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_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

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