ClinVar Miner

List of variants in gene CHD2 reported as benign for electroclinical syndrome

Included ClinVar conditions (113):
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001271.4(CHD2):c.4414-45C>T rs12915582 0.75991
NM_001271.4(CHD2):c.2727+38T>G rs11074122 0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_001271.4(CHD2):c.2728-53G>A rs2272461 0.62681
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28315
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
NM_001271.4(CHD2):c.5154-74C>T rs12905033 0.17307
NM_001271.4(CHD2):c.5154-75C>T rs12905032 0.17303
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566 0.04350
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200 0.02390
NM_001271.4(CHD2):c.3596-20G>A rs78359469 0.02014
NM_001271.4(CHD2):c.4413+15C>T rs74029217 0.01677
NM_001271.4(CHD2):c.3413+16G>A rs114892796 0.01273
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301 0.01123
NM_001271.4(CHD2):c.4138-15T>G rs115207100 0.00887
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355 0.00866
NM_001271.4(CHD2):c.693-20C>T rs141271290 0.00778
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00698
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767 0.00281
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954 0.00267
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126 0.00262
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001271.4(CHD2):c.4592+18G>A rs116022337 0.00174
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180 0.00172
NM_001271.4(CHD2):c.2353-10A>G rs190159225 0.00150
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801 0.00140
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358 0.00121
NM_001271.4(CHD2):c.2876+11G>A rs199828490 0.00110
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857 0.00099
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001271.4(CHD2):c.2577+19T>C rs193089255 0.00068
NM_001271.4(CHD2):c.2001-15C>G rs201137739 0.00047
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718 0.00040
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser) rs144395162 0.00039
NM_001271.4(CHD2):c.3886-14C>T rs368361932 0.00038
NM_001271.4(CHD2):c.3455+19T>C rs200427035 0.00031
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001271.4(CHD2):c.2728-3C>T rs2272460 0.00027
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=) rs138979360 0.00026
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556 0.00021
NM_001271.4(CHD2):c.295-20G>A rs191859431 0.00016
NM_001271.4(CHD2):c.1503-7T>C rs777008776 0.00014
NM_001271.4(CHD2):c.826+4T>C rs369930157 0.00013
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=) rs141821906 0.00011
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217 0.00010
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698 0.00006
NM_001271.4(CHD2):c.261C>G (p.Ala87=) rs367968143 0.00006
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506 0.00006
NM_001271.4(CHD2):c.551+13C>T rs137954528 0.00006
NM_001271.4(CHD2):c.1474C>T (p.Leu492=) rs139149362 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510 0.00004
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=) rs774908145 0.00003
NM_001271.4(CHD2):c.3734+7A>G rs565514035 0.00003
NM_001271.4(CHD2):c.1170A>G (p.Lys390=) rs1342167975 0.00002
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr) rs776393356 0.00002
NM_001271.4(CHD2):c.854C>T (p.Ala285Val) rs544867753 0.00002
NM_001271.4(CHD2):c.1995G>A (p.Pro665=) rs747900073 0.00001
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=) rs557766333 0.00001
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala) rs746506782 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.849A>G (p.Val283=) rs1476764301 0.00001
NM_001271.4(CHD2):c.1199-12del rs750508601
NM_001271.4(CHD2):c.1199-12dup
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3595+18dup rs767906397
NM_001271.4(CHD2):c.4008+8C>A
NM_001271.4(CHD2):c.4279-6dup rs747909672
NM_001271.4(CHD2):c.4413+21del
NM_001271.4(CHD2):c.4593-3del rs1270315601
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr) rs761860129
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu) rs1478847821
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736

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