ClinVar Miner

List of variants in gene COASY reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025233.7(COASY):c.700+96T>C rs145954924 0.00421
NM_025233.7(COASY):c.700+183T>A rs150045759 0.00411
NM_025233.7(COASY):c.1303-22T>C rs199822609 0.00113
NM_025233.7(COASY):c.207G>A (p.Thr69=) rs148132220 0.00105
NM_025233.7(COASY):c.81C>T (p.Thr27=) rs145723983 0.00056
NM_025233.7(COASY):c.156G>C (p.Gln52His) rs200009135 0.00030
NM_025233.7(COASY):c.1388-8C>T rs375555007 0.00029
NM_025233.7(COASY):c.444C>G (p.Ala148=) rs142297801 0.00016
NM_025233.7(COASY):c.1047+6C>T rs34135057 0.00011
NM_025233.7(COASY):c.1302+7A>G rs368716842 0.00011
NM_025233.7(COASY):c.518C>A (p.Thr173Lys) rs751069547 0.00009
NM_025233.7(COASY):c.1149G>A (p.Ala383=) rs775259112 0.00004
NM_025233.7(COASY):c.1431C>T (p.Ala477=) rs749293853 0.00004
NM_025233.7(COASY):c.1486-13C>T rs1002869698 0.00001
NM_025233.7(COASY):c.700+20G>C rs1188639990 0.00001
NM_025233.7(COASY):c.744G>A (p.Val248=) rs759365582 0.00001
NM_025233.7(COASY):c.916-4C>G rs530335241 0.00001
NM_025233.7(COASY):c.-439C>G rs1555624532
NM_025233.7(COASY):c.1068A>T (p.Thr356=) rs1219661290
NM_025233.7(COASY):c.1302+19del rs778587218
NM_025233.7(COASY):c.805C>T (p.Leu269=) rs1555624916
NM_025233.7(COASY):c.825C>A (p.Pro275=) rs148652390
NM_025233.7(COASY):c.825C>T (p.Pro275=) rs148652390

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.