ClinVar Miner

List of variants reported as likely benign for Developmental and epileptic encephalopathy, 12 by Illumina Laboratory Services, Illumina

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.*749G>C rs16995375 0.01704
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_015192.4(PLCB1):c.*855G>A rs115731722 0.00722
NM_015192.4(PLCB1):c.*1538G>T rs116163517 0.00719
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251

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