ClinVar Miner

List of variants in gene CEP164 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=) rs522885 0.96045
NM_014956.5(CEP164):c.1482T>C (p.Pro494=) rs897836 0.93246
NM_014956.5(CEP164):c.3090-16A>C rs693147 0.60559
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) rs573455 0.47249
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553 0.03797
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324 0.02599
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850 0.01922
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733 0.01531
NM_014956.5(CEP164):c.194+13G>T rs116804346 0.01147
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854 0.00444
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381 0.00313
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe) rs148424362 0.00302
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln) rs61745877 0.00242
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro) rs138868323 0.00177
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His) rs144910893 0.00134
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738 0.00110
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269 0.00080
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873 0.00077
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414 0.00075
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105 0.00041
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=) rs149964584 0.00029
NM_014956.5(CEP164):c.3610-4A>G rs111915712 0.00025
NM_014956.5(CEP164):c.828C>T (p.Ala276=) rs201125321 0.00013
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser) rs138487235 0.00010
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys) rs149875085 0.00008
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=) rs371631049 0.00008
NM_014956.5(CEP164):c.552+8C>T rs368573245 0.00006
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=) rs368609037 0.00004
NM_014956.5(CEP164):c.1233+9G>A rs1042105817 0.00003
NM_014956.5(CEP164):c.1569C>G (p.Ser523=) rs747829353 0.00002
NM_014956.5(CEP164):c.1704C>T (p.Thr568=) rs755780242 0.00002
NM_014956.5(CEP164):c.396C>T (p.Ala132=) rs145551039 0.00002
NM_014956.5(CEP164):c.3089+6G>A rs374896228 0.00001
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=) rs371592315 0.00001
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr) rs180911439 0.00001
NM_014956.5(CEP164):c.1116T>G (p.Ala372=) rs2042180843
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser) rs2042670551
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.1991A>C (p.Glu664Ala)
NM_014956.5(CEP164):c.2280A>G (p.Lys760=)
NM_014956.5(CEP164):c.2466T>G (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)
NM_014956.5(CEP164):c.2914-6C>T
NM_014956.5(CEP164):c.3144T>A (p.Val1048=) rs886038608
NM_014956.5(CEP164):c.3270C>T (p.Tyr1090=)
NM_014956.5(CEP164):c.3297C>G (p.Val1099=)
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874

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.