ClinVar Miner

List of variants studied for Brugada syndrome by Revvity Omics, Revvity

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu) rs779536902 0.00001
NM_005472.5(KCNE3):c.242G>A (p.Arg81His)
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys) rs764111314
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) rs577739840
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile) rs747480172
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser) rs886039055

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