ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe) rs893203290 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 0.00002
NM_001271.4(CHD2):c.4144G>A (p.Gly1382Ser) rs1472548207 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.1243T>C (p.Cys415Arg) rs1596399282
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.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.3215G>T (p.Arg1072Leu) rs1596436515
NM_001271.4(CHD2):c.3257A>G (p.Asp1086Gly)
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
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.3886A>T (p.Ile1296Phe)
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.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.4576A>G (p.Ile1526Val)
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.5162A>G (p.His1721Arg) rs2054568715
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.702A>T (p.Glu234Asp)

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.