List of variants reported as pathogenic for Jervell and Lange-Nielsen syndrome 1 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	rs120074190	0.00006
KCNQ1, IVS1
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)	rs397515637
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	rs120074189
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	rs397508103
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)	rs397508110
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	rs397508117
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	rs120074186

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