ClinVar Miner

List of variants studied for Andersen Tawil syndrome by Blueprint Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384

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