ClinVar Miner

List of variants studied for Brugada syndrome by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000335.4(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.4(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_000335.4(SCN5A):c.3422C>T (p.Ala1141Val) rs879255356
NM_000335.4(SCN5A):c.3574C>T (p.Arg1192Trp) rs192379242
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117

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