ClinVar Miner

List of variants reported as pathogenic for Jervell and Lange-Nielsen syndrome 1 by Biotechnology Research Center,Pasteur Institute of Iran

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Total variants: 4
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NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) rs1554903804
NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) rs1554919471
NM_181798.1(KCNQ1):c.1351+5del rs1554920833
NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) rs1554893092

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