ClinVar Miner

List of variants in gene CHD2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
Download table as spreadsheet
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.4219T>A (p.Ser1407Thr) rs61756301 0.01123
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355 0.00866
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00698
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.2730A>T (p.Val910=) rs77895180 0.00172
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.855G>A (p.Ala285=) rs138796857 0.00099
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068 0.00047
NM_001271.4(CHD2):c.1810-3T>C rs189339982 0.00041
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.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995 0.00029
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.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001271.4(CHD2):c.4009-4C>T rs376566234 0.00017
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 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.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217 0.00010
NM_001271.4(CHD2):c.1116G>A (p.Glu372=) rs147482358 0.00009
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
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.4814A>C (p.Lys1605Thr) rs780701076 0.00006
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506 0.00006
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256 0.00005
NM_001271.4(CHD2):c.1474C>T (p.Leu492=) rs139149362 0.00004
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275 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.5036G>A (p.Arg1679Gln) rs373039868 0.00004
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510 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.1155T>A (p.Ala385=) rs374640261 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.2769G>A (p.Glu923=) rs755268343 0.00003
NM_001271.4(CHD2):c.294+5C>T rs777934535 0.00003
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro) rs760099829 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=) rs543526502 0.00003
NM_001271.4(CHD2):c.596G>A (p.Arg199His) rs367550855 0.00003
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=) rs756324303 0.00002
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys) rs764705223 0.00002
NM_001271.4(CHD2):c.699A>G (p.Lys233=) rs201178956 0.00002
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245 0.00001
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser) rs2052524504 0.00001
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056 0.00001
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile) rs1359060187 0.00001
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys) rs1567148426 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.2740C>T (p.Arg914Cys) rs1488275340 0.00001
NM_001271.4(CHD2):c.2874C>T (p.Ser958=) rs1233633116 0.00001
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 0.00001
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys) rs757981280 0.00001
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys) rs559187972 0.00001
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=) rs113077918 0.00001
NM_001271.4(CHD2):c.3867G>A (p.Glu1289=) rs1358081390 0.00001
NM_001271.4(CHD2):c.4800C>T (p.Asn1600=) rs748452670 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=) rs781575273 0.00001
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg) rs1287619700 0.00001
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.663G>C (p.Gln221His) rs776917899 0.00001
NM_001271.4(CHD2):c.677C>T (p.Ala226Val) rs1379301229 0.00001
NM_001271.4(CHD2):c.918G>A (p.Gln306=) rs373093638 0.00001
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
NM_001271.4(CHD2):c.1233C>G (p.Pro411=)
NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)
NM_001271.4(CHD2):c.1532T>C (p.Met511Thr) rs1555440555
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
NM_001271.4(CHD2):c.1622C>G (p.Pro541Arg) rs1555440561
NM_001271.4(CHD2):c.1734A>G (p.Glu578=) rs762612275
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
NM_001271.4(CHD2):c.1997A>G (p.Glu666Gly)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.210A>C (p.Ser70=) rs1567126992
NM_001271.4(CHD2):c.2155G>A (p.Val719Met)
NM_001271.4(CHD2):c.2156T>C (p.Val719Ala)
NM_001271.4(CHD2):c.2221del (p.Ala741fs)
NM_001271.4(CHD2):c.225C>T (p.Ser75=) rs144667627
NM_001271.4(CHD2):c.2337A>C (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)
NM_001271.4(CHD2):c.2505+152_2505+464del
NM_001271.4(CHD2):c.2506-4A>G rs1259027522
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val) rs2141843246
NM_001271.4(CHD2):c.2715T>C (p.Gly905=) rs1567149966
NM_001271.4(CHD2):c.2851C>T (p.Leu951=)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln) rs1567152270
NM_001271.4(CHD2):c.3250G>A (p.Asp1084Asn)
NM_001271.4(CHD2):c.3413+1G>C
NM_001271.4(CHD2):c.3453A>G (p.Glu1151=)
NM_001271.4(CHD2):c.3546G>A (p.Val1182=)
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr) rs2054197453
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4015T>C (p.Leu1339=) rs764733107
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4052A>G (p.Lys1351Arg) rs1444955768
NM_001271.4(CHD2):c.4298A>G (p.Lys1433Arg)
NM_001271.4(CHD2):c.4360G>A (p.Val1454Ile)
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4480A>G (p.Asn1494Asp) rs1567162493
NM_001271.4(CHD2):c.4593-3del rs1270315601
NM_001271.4(CHD2):c.4601G>A (p.Trp1534Ter) rs1567163701
NM_001271.4(CHD2):c.4602G>T (p.Trp1534Cys) rs1555445563
NM_001271.4(CHD2):c.4683AGA[2] (p.Glu1565del) rs1567163725
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.477A>G (p.Glu159=) rs2141773476
NM_001271.4(CHD2):c.4804C>G (p.His1602Asp)
NM_001271.4(CHD2):c.4841dup (p.Gln1615fs) rs2054437773
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.4(CHD2):c.5023T>C (p.Tyr1675His)
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg) rs770784804
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln) rs1240488615
NM_001271.4(CHD2):c.5229A>C (p.Arg1743=)
NM_001271.4(CHD2):c.522dup (p.Val175fs)
NM_001271.4(CHD2):c.5280C>T (p.Asp1760=)
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg) rs770556699
NM_001271.4(CHD2):c.5466C>A (p.Asn1822Lys)
NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)
NM_001271.4(CHD2):c.613C>T (p.Gln205Ter) rs2053325154
NM_001271.4(CHD2):c.667C>G (p.Arg223Gly) rs200830337
NM_001271.4(CHD2):c.674G>A (p.Arg225Lys) rs1304008714
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.706G>A (p.Asp236Asn) rs2053387778
NM_001271.4(CHD2):c.813G>A (p.Leu271=) rs907174346
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr) rs2141787468
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro) rs138279266
NM_001271.4(CHD2):c.946T>A (p.Tyr316Asn)
NM_001271.4(CHD2):c.954C>T (p.His318=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.