ClinVar Miner

List of variants studied for Hypokalemic periodic paralysis, type 1 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile) rs1572049461
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647

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