ClinVar Miner

List of variants in gene MBD5 reported as benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00004
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524

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.