ClinVar Miner

List of variants in gene CHD2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4907-269A>G rs55675444 0.02925
NM_001271.4(CHD2):c.4414-26G>A rs72647789 0.02490
NM_001271.4(CHD2):c.295-154A>T rs78223026 0.01954
NM_001271.4(CHD2):c.4008+210C>G rs149459529 0.01679
NM_001271.4(CHD2):c.4414-97del rs201797039 0.01595
NM_001271.4(CHD2):c.692+161G>A rs145374222 0.01516
NM_001271.4(CHD2):c.443+217G>A rs116688898 0.01389
NM_001271.4(CHD2):c.3413+43G>A rs78191674 0.01378
NM_001271.4(CHD2):c.4593-204C>G rs62023153 0.01338
NM_001271.4(CHD2):c.5153+152A>T rs138642347 0.01258
NM_001271.4(CHD2):c.*73G>A rs4778070 0.01256
NM_001271.4(CHD2):c.4138-159G>A rs8040470 0.01147
NM_001271.4(CHD2):c.1810-158A>G rs62023126 0.01139
NM_001271.4(CHD2):c.2190-197T>A rs62023143 0.01133
NM_001271.4(CHD2):c.1378-96T>G rs80212944 0.00902
NM_001271.4(CHD2):c.4692+251C>A rs7172849 0.00894
NM_001271.4(CHD2):c.4137+37A>G rs147884853 0.00757
NM_001271.4(CHD2):c.1053-300C>T rs141921472 0.00721
NM_001271.4(CHD2):c.2001-164T>A rs76698607 0.00710
NM_001271.4(CHD2):c.382-179T>C rs145139295 0.00694
NM_001271.4(CHD2):c.4593-34A>G rs117430127 0.00656
NM_001271.4(CHD2):c.63-214T>C rs77734149 0.00580
NM_001271.4(CHD2):c.1154-103G>C rs60654366 0.00564
NM_001271.4(CHD2):c.4593-214C>T rs114043537 0.00560
NM_001271.4(CHD2):c.4693-248A>G rs16947333 0.00544
NM_001271.4(CHD2):c.2000+139G>A rs60312088 0.00488
NM_001271.4(CHD2):c.1810-224G>A rs58546115 0.00484
NM_001271.4(CHD2):c.4137+250T>C rs145315742 0.00453
NM_001271.4(CHD2):c.2728-55T>C rs74029210 0.00351
NM_001271.4(CHD2):c.4008+248G>A rs188266470 0.00344
NM_001271.4(CHD2):c.2578-279A>G rs55687170 0.00342
NM_001271.4(CHD2):c.4279-102A>T rs74029216 0.00336
NM_001271.4(CHD2):c.4693-130G>C rs115581167 0.00327
NM_001271.4(CHD2):c.3413+114A>C rs376527352 0.00256
NM_001271.4(CHD2):c.551+80G>A rs114302923 0.00242
NM_001271.4(CHD2):c.551+121T>C rs143500030 0.00241
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.-72+12A>G rs545891757 0.00040
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.4413+40C>T rs185121932 0.00024
NM_001271.4(CHD2):c.2505+26G>T rs574954863 0.00023
NM_001271.4(CHD2):c.3413+47T>C rs374791208 0.00021
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_001271.4(CHD2):c.5153+24C>T rs370525738 0.00021
NM_001271.4(CHD2):c.2190-43G>T rs189630679 0.00018
NM_001271.4(CHD2):c.2728-16G>A rs111544874 0.00018
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.551+5A>C rs376498798 0.00016
NM_001271.4(CHD2):c.4485G>A (p.Val1495=) rs143356457 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.-83dup rs1179011502 0.00009
NM_001271.4(CHD2):c.1116G>A (p.Glu372=) rs147482358 0.00009
NM_001271.4(CHD2):c.2727+44C>G rs1212722322 0.00009
NM_001271.4(CHD2):c.2727+46A>G rs1275114588 0.00009
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189 0.00009
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_001271.4(CHD2):c.*10C>T rs374048872 0.00008
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063 0.00008
NM_001271.4(CHD2):c.2506-11T>G rs376323635 0.00007
NM_001271.4(CHD2):c.2703G>A (p.Ala901=) rs776453723 0.00007
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=) rs769365893 0.00007
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.5063G>A (p.Ser1688Asn) rs761991634 0.00007
NM_001271.4(CHD2):c.5064C>T (p.Ser1688=) rs767804369 0.00007
NM_001271.4(CHD2):c.984G>A (p.Gln328=) rs944181807 0.00007
NM_001271.4(CHD2):c.1233C>T (p.Pro411=) rs202188833 0.00006
NM_001271.4(CHD2):c.261C>G (p.Ala87=) rs367968143 0.00006
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 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.4986C>T (p.His1662=) rs139082993 0.00006
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506 0.00006
NM_001271.4(CHD2):c.826+14G>A rs189583903 0.00006
NM_001271.4(CHD2):c.2835C>T (p.Thr945=) rs752124959 0.00005
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=) rs138836603 0.00005
NM_001271.4(CHD2):c.1359C>T (p.Ile453=) rs777978644 0.00004
NM_001271.4(CHD2):c.2601A>G (p.Thr867=) rs145367388 0.00004
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275 0.00004
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=) rs547927047 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=) rs772169751 0.00004
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg) rs373051961 0.00004
NM_001271.4(CHD2):c.4693-13T>A rs1364594839 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767 0.00004
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His) rs140365508 0.00004
NM_001271.4(CHD2):c.600A>G (p.Gly200=) rs1057522302 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.2850C>A (p.Ile950=) rs780916645 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.585G>A (p.Pro195=) rs371325259 0.00003
NM_001271.4(CHD2):c.62+19C>A rs748026656 0.00003
NM_001271.4(CHD2):c.2091T>A (p.Leu697=) rs770949083 0.00002
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.4034G>C (p.Arg1345Pro) rs751507887 0.00002
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503 0.00002
NM_001271.4(CHD2):c.4693-19G>A rs764154165 0.00002
NM_001271.4(CHD2):c.5154-13A>G rs747116554 0.00002
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=) rs773814385 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 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.1154-6G>A rs1275001828 0.00001
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984 0.00001
NM_001271.4(CHD2):c.1248A>G (p.Lys416=) rs1034535662 0.00001
NM_001271.4(CHD2):c.1317T>C (p.Asn439=) rs753188917 0.00001
NM_001271.4(CHD2):c.1378-18T>C rs748100193 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.159G>A (p.Ser53=) rs552271683 0.00001
NM_001271.4(CHD2):c.174A>G (p.Glu58=) rs1168929886 0.00001
NM_001271.4(CHD2):c.1764G>A (p.Lys588=) rs139263117 0.00001
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056 0.00001
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289 0.00001
NM_001271.4(CHD2):c.219C>G (p.Ser73=) rs140718403 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.3067-6T>C rs901346678 0.00001
NM_001271.4(CHD2):c.30G>A (p.Glu10=) rs754725429 0.00001
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=) rs1005206801 0.00001
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys) rs200013427 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.3483G>A (p.Glu1161=) rs747595052 0.00001
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=) rs753318183 0.00001
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys) rs559187972 0.00001
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=) rs754764864 0.00001
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=) rs376550364 0.00001
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser) rs776072657 0.00001
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys) rs766747626 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.4228G>T (p.Asp1410Tyr) rs775901148 0.00001
NM_001271.4(CHD2):c.4278+15C>T rs751745833 0.00001
NM_001271.4(CHD2):c.4414-3C>T rs1224217756 0.00001
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=) rs749592290 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.4961A>G (p.Asn1654Ser) rs1064795301 0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=) rs199851404 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=) rs1160530295 0.00001
NM_001271.4(CHD2):c.63-19C>T rs753257921 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.798C>G (p.Val266=) rs1302498638 0.00001
NM_001271.4(CHD2):c.825A>T (p.Gly275=) rs372257500 0.00001
NM_001271.4(CHD2):c.-47A>G rs1057522237
NM_001271.4(CHD2):c.-84C>T rs887318768
NM_001271.4(CHD2):c.-88_-87dup rs756801755
NM_001271.4(CHD2):c.1035G>C (p.Glu345Asp) rs1555439555
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
NM_001271.4(CHD2):c.1052+114A>T rs188090316
NM_001271.4(CHD2):c.1052+12A>T rs1239102841
NM_001271.4(CHD2):c.1053-181_1053-180del rs142689057
NM_001271.4(CHD2):c.1199-12del rs750508601
NM_001271.4(CHD2):c.1296C>G (p.Leu432=) rs1596399313
NM_001271.4(CHD2):c.1371A>G (p.Glu457=) rs770946811
NM_001271.4(CHD2):c.1377+257TTTTA[5] rs546757533
NM_001271.4(CHD2):c.1503-19T>C rs1390489313
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile) rs1368222485
NM_001271.4(CHD2):c.1720-3T>C rs759231634
NM_001271.4(CHD2):c.1809+13T>C rs1555440769
NM_001271.4(CHD2):c.1962A>G (p.Lys654=) rs1596407148
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.2169C>T (p.Ala723=) rs745604322
NM_001271.4(CHD2):c.2189+21G>A rs190676730
NM_001271.4(CHD2):c.2189+21G>C rs190676730
NM_001271.4(CHD2):c.2190-123T>A rs79049389
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.2502C>T (p.Phe834=) rs1461571191
NM_001271.4(CHD2):c.2506-4A>G rs1259027522
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser) rs2141844278
NM_001271.4(CHD2):c.294+18C>T rs771270272
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) 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.3456-299C>T rs114897752
NM_001271.4(CHD2):c.3595+18dup rs767906397
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.4339A>G (p.Ile1447Val) rs1596452072
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.4693-136dup rs199887394
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.4906+179dup rs368505383
NM_001271.4(CHD2):c.4907-67_4907-65dup rs57995034
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.5371C>G (p.Pro1791Ala) rs1273588349
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

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