ClinVar Miner

List of variants in gene CEP164 studied for not specified

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Total variants: 24
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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.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.2772C>G (p.Leu924=) rs117473319 0.00201
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738 0.00110
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NC_000011.9:g.(117206397_117209281)_(117222705_117232550)dup
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.3144T>A (p.Val1048=) rs886038608
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys) rs565845914

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