ClinVar Miner

List of variants in gene CHD2 reported as pathogenic for not provided

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 15q26.1(chr15:93464314-93532937)x1
GRCh37/hg19 15q26.1(chr15:93486073-93486298)x1
NM_001271.4(CHD2):c.1052G>A (p.Trp351Ter) rs1555439557
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1153+1G>C
NM_001271.4(CHD2):c.1234G>T (p.Glu412Ter) rs541056569
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter) rs1567138301
NM_001271.4(CHD2):c.1459del (p.Tyr487fs) rs2141802547
NM_001271.4(CHD2):c.1462C>T (p.Gln488Ter) rs1057518236
NM_001271.4(CHD2):c.1481G>A (p.Trp494Ter) rs886041857
NM_001271.4(CHD2):c.1652_1653del (p.Glu551fs) rs886041628
NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs) rs886041628
NM_001271.4(CHD2):c.1802_1809+46del
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp) rs1064795815
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2189+1G>T rs2141830701
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu) rs1085308000
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter) rs2053935397
NM_001271.4(CHD2):c.2674C>T (p.Gln892Ter) rs1567149938
NM_001271.4(CHD2):c.2674del (p.Gln892fs) rs1596427956
NM_001271.4(CHD2):c.2686C>T (p.Gln896Ter) rs2141843235
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.271G>T (p.Glu91Ter) rs886041650
NM_001271.4(CHD2):c.3067-2A>G rs886041717
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3220del (p.Arg1074fs) rs886041783
NM_001271.4(CHD2):c.3268G>T (p.Glu1090Ter)
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3445_3448del (p.Pro1149fs) rs2054119238
NM_001271.4(CHD2):c.3548C>A (p.Ser1183Ter) rs775406327
NM_001271.4(CHD2):c.3564C>G (p.Tyr1188Ter) rs2272457
NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter) rs2054139802
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3700A>T (p.Lys1234Ter) rs1596447013
NM_001271.4(CHD2):c.3702dup (p.Ser1235fs) rs1596447015
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) rs1555444603
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3783G>T (p.Trp1261Cys) rs2141867643
NM_001271.4(CHD2):c.3786_3787del (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.3989del (p.Ala1330fs) rs1131692014
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs) rs2141873663
NM_001271.4(CHD2):c.4413+1G>A rs886041547
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4682_4683insT (p.Gln1561fs)
NM_001271.4(CHD2):c.4706_4709del (p.Lys1569fs) rs886041566
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4935del (p.Lys1645fs) rs2141895144
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4999C>T (p.Gln1667Ter) rs1057523601
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.693-2A>T rs886039708
NM_001271.4(CHD2):c.696C>G (p.Tyr232Ter)
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545
NM_001271.4(CHD2):c.982C>T (p.Gln328Ter) rs1085307766

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