ClinVar Miner

List of variants in gene MBD5 studied for See cases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q23.1(chr2:148815797-149201267)x3
GRCh37/hg19 2q23.1(chr2:148859098-148990429)x1
GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1
GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1
GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1
GRCh37/hg19 2q23.1(chr2:148957572-149100105)x1
GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1
NC_000002.12:g.148082082_148203828del
NM_001378120.1(MBD5):c.1001A>C (p.Gln334Pro) rs2105628183
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.2413A>C (p.Asn805His) rs796052712
NM_001378120.1(MBD5):c.4591A>C (p.Ser1531Arg) rs781154198

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.