ClinVar Miner

List of variants in gene CEP164 reported as benign for Nephronophthisis 15

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Total variants: 49
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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.766-36T>A rs2305826 0.54836
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.1480C>A (p.Pro494Thr) rs114396665 0.00703
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.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly) rs200122409 0.00058
NM_014956.5(CEP164):c.1410-2A>G rs200074826 0.00054
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105 0.00041
NM_014956.5(CEP164):c.726C>T (p.His242=) rs549905287 0.00036
NM_014956.5(CEP164):c.687+15C>T rs200387177 0.00018
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala) rs56699807 0.00017
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.3364C>T (p.Arg1122Cys) rs149875085 0.00008
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310 0.00007
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3749-8del rs2047095365
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro) rs756182128
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro) rs758240656
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=) rs201718007
NM_014956.5(CEP164):c.4096+19G>A
NM_014956.5(CEP164):c.688-7T>C rs539939395

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