ClinVar Miner

List of variants in gene CHD2 reported as pathogenic for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NC_000015.10:g.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_93444468)_(93536248_?)del
NC_000015.9:g.(?_93444468)_(93583743_?)del
NC_000015.9:g.(?_93485032)_(93515667_?)del
NC_000015.9:g.(?_93489031)_(93489466_?)del
NC_000015.9:g.(?_93514985)_(93518190_?)del
NC_000015.9:g.(?_93521444)_(93522533_?)del
NC_000015.9:g.(?_93528708)_(93528923_?)del
NC_000015.9:g.(?_93552355)_(93567935_?)del
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
NM_001271.4(CHD2):c.1032dup (p.Glu345fs) rs2053406905
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1052+2T>C rs2141787733
NM_001271.4(CHD2):c.1053-1G>C rs2141790977
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter) rs2053431103
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1144dup (p.Arg382fs)
NM_001271.4(CHD2):c.1153+3_1153+19del rs2141791104
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
NM_001271.4(CHD2):c.121del (p.Gln41fs)
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter) rs2141802487
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter) rs1567138301
NM_001271.4(CHD2):c.1497del (p.Trp499fs) rs2141802578
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
NM_001271.4(CHD2):c.1541dup (p.Thr516fs) rs2053579191
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs) rs2141811616
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs) rs886041628
NM_001271.4(CHD2):c.1663_1664insC (p.Trp555fs)
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs) rs2053606835
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer) rs2141814886
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs) rs2141816511
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter) rs2141816525
NM_001271.4(CHD2):c.1858del (p.His620fs)
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp) rs1064795815
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs) rs2141816549
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) rs1555440885
NM_001271.4(CHD2):c.1883del (p.Leu628fs) rs2141816557
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
NM_001271.4(CHD2):c.1894dup (p.Thr632fs) rs2053619207
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs) rs2053619257
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
NM_001271.4(CHD2):c.2032dup (p.His678fs)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2105A>G (p.Lys702Arg)
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
NM_001271.4(CHD2):c.2159_2166dup (p.Ala723fs)
NM_001271.4(CHD2):c.2165C>A (p.Ser722Ter)
NM_001271.4(CHD2):c.2211C>A (p.Tyr737Ter)
NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly) rs2141839141
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs) rs2141843174
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter) rs1085308000
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu) rs2141843235
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly) rs1567149943
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter) rs1567149943
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2731A>G (p.Asn911Asp)
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile) rs2141844210
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2767dup (p.Glu923fs) rs2141844219
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter) rs2141844243
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs) rs2141844251
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
NM_001271.4(CHD2):c.294+3A>G rs2141746246
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter) rs2141850583
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
NM_001271.4(CHD2):c.3169del (p.Glu1057fs)
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs) rs2054015565
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3199dup (p.Ile1067fs)
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3257_3258del (p.Asp1086fs)
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs) rs2141851950
NM_001271.4(CHD2):c.3277_3278del (p.Arg1093fs)
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer) rs2141851983
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter) rs777803897
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs) rs2141852009
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3412del (p.Arg1138fs) rs2141852057
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
NM_001271.4(CHD2):c.3610A>T (p.Lys1204Ter)
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer) rs2141867280
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) rs1555444603
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
NM_001271.4(CHD2):c.3917del (p.Gln1306fs)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln) rs1131692012
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro) rs1131692012
NM_001271.4(CHD2):c.395dup (p.Ser132_Glu133insTer)
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) rs1246923304
NM_001271.4(CHD2):c.4026dup (p.Lys1343fs)
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs) rs749969667
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) rs3210462
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs) rs2141873663
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs) rs2141873672
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer) rs2141876515
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
NM_001271.4(CHD2):c.442C>T (p.Gln148Ter)
NM_001271.4(CHD2):c.443+3_443+6del rs2141755356
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4515C>A (p.Cys1505Ter)
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter) rs2141881688
NM_001271.4(CHD2):c.462_470delinsGATGAACAGG (p.Pro155fs)
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs) rs2054514265
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs) rs2054514589
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs) rs2141895289
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter) rs751251777
NM_001271.4(CHD2):c.5153+1G>T rs761115271
NM_001271.4(CHD2):c.5153+2T>C
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001271.4(CHD2):c.617del (p.Asp206fs)
NM_001271.4(CHD2):c.625del (p.Asp209fs)
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001271.4(CHD2):c.654dup (p.Lys219fs) rs2141778479
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter) rs2053326002
NM_001271.4(CHD2):c.693-2A>G rs886039708
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.747_748del (p.Gly250fs) rs2053387971
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter) rs2141785162
NM_001271.4(CHD2):c.847del (p.Val283fs)
NM_001271.4(CHD2):c.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.938_948del (p.Gly313fs) rs2141787520
NM_001271.4(CHD2):c.938del (p.Gly313fs)
NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter) rs1423903266
NM_001271.4(CHD2):c.973G>T (p.Glu325Ter)
NM_001271.4(CHD2):c.975del (p.Glu325fs) rs2141787589

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