ClinVar Miner

List of variants studied for Epilepsy, childhood absence, susceptibility to, 6 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met) rs119454949 0.00002
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_021098.2(CACNA1H):c.[2318G>A;2362C>T]
NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu) rs119454947

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