ClinVar Miner

List of variants studied for Andersen Tawil syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) rs1555603955

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