ClinVar Miner

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

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Total variants: 2

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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.935G>A (p.Arg312His)	rs786205820

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