ClinVar Miner

List of variants studied for Andersen Tawil syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820

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