ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_015192.4(PLCB1):c.3337-69G>A rs45541432 0.00021
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) rs1557042706
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725

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