ClinVar Miner

List of variants reported as pathogenic for Andersen Tawil syndrome by Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	rs104894580
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820

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