ClinVar Miner

List of variants reported as not provided for Jervell and Lange-Nielsen syndrome 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs) rs397508079
NM_000218.3(KCNQ1):c.1189del (p.Arg397fs) rs397508081
NM_000218.3(KCNQ1):c.1686-1G>A rs397508098
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe) rs397508123

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