ClinVar Miner

List of variants reported as likely pathogenic for Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	rs1558008455
NM_000702.4(ATP1A2):c.835del (p.Arg279fs)	rs1558005340

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