ClinVar Miner

List of variants reported 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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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092

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