ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 38 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)	rs730882241	0.00002
NM_022786.3(ARV1):c.294+1G>A	rs150619347	0.00001
NM_022786.3(ARV1):c.674-2A>T	rs1192627743

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