ClinVar Miner

List of variants in gene CHD2 reported as likely pathogenic for genetic developmental and epileptic encephalopathy

Included ClinVar conditions (230):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro) rs1459840646 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys) rs1024223144 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NC_000015.9:g.(?_93540167)_(93540653_?)dup
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_001271.4(CHD2):c.1053-2A>C rs2505451901
NM_001271.4(CHD2):c.1053-2A>T
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1154-1G>T rs2505457447
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1198+2T>C rs2505457598
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe) rs2505458984
NM_001271.4(CHD2):c.1503-2A>G rs2505480050
NM_001271.4(CHD2):c.1570dup (p.Ser524fs) rs2505480134
NM_001271.4(CHD2):c.1628C>A (p.Ser543Tyr)
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs) rs2141816557
NM_001271.4(CHD2):c.1898dup (p.Ile634fs) rs2505488406
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys) rs2053619460
NM_001271.4(CHD2):c.1934C>G (p.Thr645Arg) rs2053619460
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2080G>T (p.Glu694Ter)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro) rs2505528053
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe) rs2505543172
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp) rs2505543181
NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del) rs2505543217
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys) rs2053935416
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr) rs2505543288
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly) rs1567149962
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala) rs2505545506
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly) rs2505545578
NM_001271.4(CHD2):c.2825G>T (p.Arg942Leu)
NM_001271.4(CHD2):c.2876+1G>T rs2505545691
NM_001271.4(CHD2):c.294+1G>T rs758587018
NM_001271.4(CHD2):c.3069dup (p.Ala1024fs)
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A rs2505559102
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg) rs2505562545
NM_001271.4(CHD2):c.3414-2A>G rs2505576912
NM_001271.4(CHD2):c.3428A>G (p.Tyr1143Cys) rs2505576945
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly) rs2505580525
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro) rs2505589793
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3735-1G>A
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C rs2505593774
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G rs770408707
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.4137+2T>C rs2505599524
NM_001271.4(CHD2):c.4137+3A>G rs1064794837
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter) rs2505617458
NM_001271.4(CHD2):c.4560del (p.Ser1521fs) rs2054360719
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg) rs2505624851
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer) rs864309545
NM_001271.4(CHD2):c.4780C>T (p.Gln1594Ter)
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001271.4(CHD2):c.789dup (p.Glu264Ter) rs2053388293

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