ClinVar Miner

List of variants studied for Epilepsy, familial adult myoclonic, 5 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln) rs139732381 0.00002
NM_005076.5(CNTN2):c.2431+5G>A rs1380526589
NM_005076.5(CNTN2):c.2983C>T (p.Pro995Ser) rs1654685363

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