ClinVar Miner

List of variants reported as likely pathogenic for Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5

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Total variants: 14
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829
NM_000069.3(CACNA1S):c.2158-2A>G
NM_000069.3(CACNA1S):c.2854-2A>C rs1572036396
NM_000069.3(CACNA1S):c.3525+1G>A rs1572033599
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4442-2A>G
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517
NM_000069.3(CACNA1S):c.5227-2del

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