ClinVar Miner

List of variants studied for long QT syndrome by Center for Human Genetics, University of Leuven

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_003098.3(SNTA1):c.368C>G (p.Ala123Gly) rs755263941 0.00001
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.4(KCNH2):c.2038del (p.Val680fs) rs1554425498

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