ClinVar Miner

List of variants in gene combination NPR2, SPAG8 reported as likely pathogenic for Epilepsy, familial focal, with variable foci 2

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457

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