ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 36

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)	rs763832124	0.00002
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)	rs2525054281
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)	rs398122394

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