ClinVar Miner

List of variants reported as uncertain significance for Jervell and Lange-Nielsen syndrome 1 by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (4):
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.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr) rs1469698360 0.00002

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