ClinVar Miner

List of variants studied for Familial hypokalemia-hypomagnesemia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) rs267607051

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