ClinVar Miner

List of variants in gene CHD2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 101
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HGVS dbSNP gnomAD frequency
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.5153+70T>C rs185298961 0.00290
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954 0.00267
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.960A>T (p.Thr320=) rs149632554 0.00078
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718 0.00040
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322 0.00031
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
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.4483G>A (p.Val1495Met) rs770993927 0.00021
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.826+4T>C rs369930157 0.00013
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.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063 0.00008
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=) rs769365893 0.00007
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 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.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001271.4(CHD2):c.585G>A (p.Pro195=) rs371325259 0.00003
NM_001271.4(CHD2):c.1242A>G (p.Leu414=) rs749255095 0.00002
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe) rs893203290 0.00002
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=) rs1161487399 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 0.00002
NM_001271.4(CHD2):c.2865A>G (p.Ser955=) rs769531663 0.00001
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=) rs746728408 0.00001
NM_001271.4(CHD2):c.3828T>C (p.His1276=) rs1171704093 0.00001
NM_001271.4(CHD2):c.4144G>A (p.Gly1382Ser) rs1472548207 0.00001
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala) rs1461476360 0.00001
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala) rs374271060 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.667C>T (p.Arg223Cys) rs200830337 0.00001
NM_001271.4(CHD2):c.870C>T (p.Gly290=) rs748380979 0.00001
NM_001271.4(CHD2):c.1243T>C (p.Cys415Arg) rs1596399282
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1802_1809+46del
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2011T>C (p.Trp671Arg)
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
NM_001271.4(CHD2):c.2189+4A>T
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.2739C>T (p.Tyr913=)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3215G>T (p.Arg1072Leu) rs1596436515
NM_001271.4(CHD2):c.3257A>G (p.Asp1086Gly)
NM_001271.4(CHD2):c.3445_3448del (p.Pro1149fs) rs2054119238
NM_001271.4(CHD2):c.3455+191_3455+192del
NM_001271.4(CHD2):c.3455+193_3455+194insCTCCCT
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=) rs2054197942
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3786_3787del (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3796G>T (p.Asp1266Tyr)
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser) rs1596447174
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys) rs1596447179
NM_001271.4(CHD2):c.3886-366C>T
NM_001271.4(CHD2):c.3886A>T (p.Ile1296Phe)
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.3949T>C (p.Leu1317=) rs1064797203
NM_001271.4(CHD2):c.4030C>G (p.Pro1344Ala) rs1228128891
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
NM_001271.4(CHD2):c.444-4del rs1567132874
NM_001271.4(CHD2):c.4459G>A (p.Asp1487Asn)
NM_001271.4(CHD2):c.4550T>A (p.Leu1517His) rs2141881646
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001271.4(CHD2):c.4576A>G (p.Ile1526Val)
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4592+3_4592+5dup
NM_001271.4(CHD2):c.4806C>G (p.His1602Gln) rs527477898
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4871A>G (p.Tyr1624Cys)
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr) rs761860129
NM_001271.4(CHD2):c.4906+2T>G rs2141888382
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser) rs1567166830
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5037A>T (p.Arg1679=)
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
NM_001271.4(CHD2):c.5162A>G (p.His1721Arg) rs2054568715
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro) rs367550855
NM_001271.4(CHD2):c.62G>C (p.Ser21Thr) rs1596359879
NM_001271.4(CHD2):c.633TGA[3] (p.Asp215del) rs1596392521
NM_001271.4(CHD2):c.674G>T (p.Arg225Ile)
NM_001271.4(CHD2):c.696C>G (p.Tyr232Ter)
NM_001271.4(CHD2):c.702A>T (p.Glu234Asp)

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