ClinVar Miner

List of variants studied for Hypokalemic periodic paralysis, type 1 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000069.3(CACNA1S):c.2553G>A (p.Met851Ile)

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