ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.4941C>T (p.Asn1647=) rs1161487399 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.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.870C>T (p.Gly290=) rs748380979 0.00001
NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
NM_001271.4(CHD2):c.2739C>T (p.Tyr913=)
NM_001271.4(CHD2):c.3455+191_3455+192del
NM_001271.4(CHD2):c.3455+193_3455+194insCTCCCT
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=) rs2054197942
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4592+3_4592+5dup
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.596G>C (p.Arg199Pro) rs367550855

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.