ClinVar Miner

List of variants studied for long QT syndrome by Cavalleri Lab, Royal College of Surgeons in Ireland

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001

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