ClinVar Miner

List of variants in gene CHD2 studied for not specified

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Gene type:
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Total variants: 129
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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.2718A>G (p.Gln906=) rs11074121 0.75493
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.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.855G>A (p.Ala285=) rs138796857 0.00099
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.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.2728-3C>T rs2272460 0.00027
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556 0.00021
NM_001271.4(CHD2):c.1377+12G>A rs200005446 0.00016
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.295-20G>A rs191859431 0.00016
NM_001271.4(CHD2):c.4593-19T>C rs377557426 0.00016
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001271.4(CHD2):c.-83dup rs1179011502 0.00009
NM_001271.4(CHD2):c.*10C>T rs374048872 0.00008
NM_001271.4(CHD2):c.984G>A (p.Gln328=) rs944181807 0.00007
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001271.4(CHD2):c.4907-15T>A rs372145426 0.00006
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=) rs909107415 0.00006
NM_001271.4(CHD2):c.826+14G>A rs189583903 0.00006
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001271.4(CHD2):c.4693-13T>A rs1364594839 0.00004
NM_001271.4(CHD2):c.1719+16G>C rs755236242 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.294+5C>T rs777934535 0.00003
NM_001271.4(CHD2):c.3067-19A>G rs749337105 0.00003
NM_001271.4(CHD2):c.3734+7A>G rs565514035 0.00003
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=) rs200781322 0.00003
NM_001271.4(CHD2):c.4693-3T>C rs967867731 0.00003
NM_001271.4(CHD2):c.4776A>G (p.Ile1592Met) rs751608236 0.00003
NM_001271.4(CHD2):c.62+19C>A rs748026656 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001271.4(CHD2):c.225C>G (p.Ser75=) rs144667627 0.00002
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=) rs778897064 0.00002
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503 0.00002
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=) rs773814385 0.00002
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr) rs776393356 0.00002
NM_001271.4(CHD2):c.63-15C>G rs372471036 0.00002
NM_001271.4(CHD2):c.854C>T (p.Ala285Val) rs544867753 0.00002
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984 0.00001
NM_001271.4(CHD2):c.1378-18T>C rs748100193 0.00001
NM_001271.4(CHD2):c.159G>A (p.Ser53=) rs552271683 0.00001
NM_001271.4(CHD2):c.219C>G (p.Ser73=) rs140718403 0.00001
NM_001271.4(CHD2):c.2308C>A (p.Pro770Thr) rs1064794433 0.00001
NM_001271.4(CHD2):c.2505+19T>C rs1057521420 0.00001
NM_001271.4(CHD2):c.2802A>G (p.Val934=) rs544488824 0.00001
NM_001271.4(CHD2):c.295-17G>A rs757490818 0.00001
NM_001271.4(CHD2):c.3455+9A>C rs199958087 0.00001
NM_001271.4(CHD2):c.3456-19C>T rs780531827 0.00001
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=) rs753318183 0.00001
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=) rs376550364 0.00001
NM_001271.4(CHD2):c.4137+16T>G rs952397816 0.00001
NM_001271.4(CHD2):c.4137+17C>T rs761732184 0.00001
NM_001271.4(CHD2):c.4278+15C>T rs751745833 0.00001
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu) rs745396398 0.00001
NM_001271.4(CHD2):c.4906+20T>C rs753889013 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.63-19C>T rs753257921 0.00001
NM_001271.4(CHD2):c.798C>G (p.Val266=) rs1302498638 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
GRCh37/hg19 15q26.1(chr15:93275227-93499081)
NM_001271.4(CHD2):c.-47A>G rs1057522237
NM_001271.4(CHD2):c.-84C>T rs887318768
NM_001271.4(CHD2):c.1035G>C (p.Glu345Asp) rs1555439555
NM_001271.4(CHD2):c.1052+12A>T rs1239102841
NM_001271.4(CHD2):c.1052+3A>G rs1555439559
NM_001271.4(CHD2):c.1371A>G (p.Glu457=) rs770946811
NM_001271.4(CHD2):c.1503-19T>C rs1390489313
NM_001271.4(CHD2):c.1720-3T>C rs759231634
NM_001271.4(CHD2):c.1809+13T>C rs1555440769
NM_001271.4(CHD2):c.1876G>T (p.Asp626Tyr) rs1057518462
NM_001271.4(CHD2):c.190T>A (p.Ser64Thr) rs2141746050
NM_001271.4(CHD2):c.1998G>A (p.Glu666=) rs1057523881
NM_001271.4(CHD2):c.2130T>A (p.Pro710=) rs1555441905
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.2506-17G>A rs2141839109
NM_001271.4(CHD2):c.2506-4A>G rs1259027522
NM_001271.4(CHD2):c.2577+15_2577+20del
NM_001271.4(CHD2):c.294+18C>T rs771270272
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.327C>G (p.Val109=) rs781612109
NM_001271.4(CHD2):c.3456-20C>G rs1057523432
NM_001271.4(CHD2):c.3595+18dup rs767906397
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=) rs200766577
NM_001271.4(CHD2):c.4138-18C>T rs775111839
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA rs1555444947
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4265A>G (p.Asp1422Gly) rs1555444960
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=) rs199572989
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4592+13G>A rs1057522239
NM_001271.4(CHD2):c.4720G>C (p.Gly1574Arg) rs375612058
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu) rs56227200
NM_001271.4(CHD2):c.4756_4757delinsGT (p.Ser1586Val) rs1555445682
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.4(CHD2):c.4995T>C (p.Tyr1665=) rs1555446313
NM_001271.4(CHD2):c.5392G>A (p.Asp1798Asn) rs1057518463
NM_001271.4(CHD2):c.62+14A>C rs1385339721
NM_001271.4(CHD2):c.63-13C>A rs1555437419
NM_001271.4(CHD2):c.63-22TC[8] rs749583665
NM_001271.4(CHD2):c.692+3A>G rs1555439037
NM_001271.4(CHD2):c.720T>A (p.Thr240=) rs762283261
NM_001271.4(CHD2):c.856A>G (p.Ile286Val) rs1457822140
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736

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