ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 34 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NC_000020.11:g.(?_46021746)_(46057625_?)del
NC_000020.11:g.(?_46045858)_(46046456_?)del
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) rs1600590580
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs) rs2515641701
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs) rs2145493702
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter) rs2515644515
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter) rs2145496676
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter) rs2145496726
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter) rs771263913
NM_020708.5(SLC12A5):c.2009G>A (p.Trp670Ter)
NM_020708.5(SLC12A5):c.2161C>T (p.Gln721Ter)
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) rs2084648529
NM_020708.5(SLC12A5):c.2297del (p.Leu766fs) rs2515649366
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs) rs2145502127
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter) rs2145503665
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) rs2084424489
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs) rs2145503701
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer) rs2515652318
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter) rs2515653495
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs) rs2145507682
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer) rs2515654961
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) rs2084424722
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs) rs2145484584
NM_020708.5(SLC12A5):c.542del (p.Gly181fs)
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs) rs1555863145
NM_020708.5(SLC12A5):c.962del (p.Phe321fs) rs2515639213
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter) rs2515639218
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) rs1555863593

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