ClinVar Miner

List of variants reported as likely benign for Brugada syndrome 4 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.120+366C>G rs570174364 0.00026
NM_201596.3(CACNB2):c.334-8C>T rs374465425 0.00006
NM_201596.3(CACNB2):c.121-9_121-3del rs71402148

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