ClinVar Miner

List of variants in gene COX20 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198076.6(COX20):c.157+13A>G rs10927335 0.23478
NM_198076.6(COX20):c.221+268C>T rs12070200 0.13849
NM_198076.6(COX20):c.221+281T>A rs12096894 0.13755
NM_198076.6(COX20):c.221+153A>C rs12095737 0.13752
NM_198076.6(COX20):c.158-5_158-4insG rs150123625 0.13744
NM_198076.6(COX20):c.43-161G>C rs12058012 0.12428
NM_198076.6(COX20):c.318C>T (p.Leu106=) rs1053697 0.06920
NM_198076.6(COX20):c.353A>G (p.Asn118Ser) rs61749963 0.01183
NM_198076.6(COX20):c.221+249C>T rs182587863 0.00513
NM_198076.6(COX20):c.222-36T>C rs78677269 0.00419
NM_198076.6(COX20):c.43-124G>A rs146116444 0.00204
NM_198076.6(COX20):c.157+49T>C rs138969012 0.00175
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_198076.6(COX20):c.87C>T (p.Cys29=) rs140032239 0.00052
NM_198076.6(COX20):c.340G>A (p.Gly114Ser) rs141476240 0.00034
NM_198076.6(COX20):c.205G>A (p.Val69Met) rs185166083 0.00013
NM_198076.6(COX20):c.319G>A (p.Asp107Asn) rs373502901 0.00008
NM_198076.6(COX20):c.-10A>T rs887727938 0.00007
NM_198076.6(COX20):c.197T>G (p.Phe66Cys) rs147700538 0.00006
NM_198076.6(COX20):c.211T>C (p.Leu71=) rs758433335 0.00006
NM_198076.6(COX20):c.339C>T (p.Asn113=) rs141561272 0.00006
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00006
NM_198076.6(COX20):c.222-3A>C rs200065889 0.00003
NM_198076.6(COX20):c.107A>G (p.Tyr36Cys) rs754328791 0.00002
NM_198076.6(COX20):c.234G>A (p.Arg78=) rs747702163 0.00002
NM_198076.6(COX20):c.91C>T (p.Arg31Trp) rs373824502 0.00002
NM_198076.6(COX20):c.157+1G>A rs749171144 0.00001
NM_198076.6(COX20):c.194G>A (p.Gly65Glu) rs1173295843 0.00001
NC_000001.11:g.244835051C>T rs186294667
NM_198076.5(COX20):c.-132_-130GGC[1] rs370216563
NM_198076.6(COX20):c.*18_*19insAAGAA rs59190751
NM_198076.6(COX20):c.166AGA[1] (p.Arg57del) rs755959906
NM_198076.6(COX20):c.188_190del (p.Val63del)
NM_198076.6(COX20):c.226C>A (p.His76Asn) rs863223946
NM_198076.6(COX20):c.268A>T (p.Ile90Phe) rs2527473723
NM_198076.6(COX20):c.296TAT[1] (p.Leu100del)
NM_198076.6(COX20):c.342C>T (p.Gly114=) rs1057522544
NM_198076.6(COX20):c.67G>A (p.Asp23Asn) rs1208640276
NM_198076.6(COX20):c.7G>T (p.Ala3Ser) rs201152357

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.