ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 12 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)	rs150241349	0.00012
NM_015192.4(PLCB1):c.890G>A (p.Arg297His)	rs775904184	0.00003

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