ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 74 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser)	rs796052508
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	rs397514737

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