ClinVar Miner

List of variants reported as benign for Senior-Loken syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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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_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553 0.03797
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
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_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850 0.01922
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733 0.01531
NM_014956.5(CEP164):c.194+13G>T rs116804346 0.01147
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
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_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
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_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
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_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_025132.4(WDR19):c.1135-18C>G rs187658795 0.00095
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
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_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105 0.00041
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_014956.5(CEP164):c.726C>T (p.His242=) rs549905287 0.00036
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
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_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
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_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1357-13dup
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.307-8dup
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
NM_025132.4(WDR19):c.165-6dup
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2364-4dup rs750106753
NM_025132.4(WDR19):c.2364-5_2364-4del
NM_025132.4(WDR19):c.2730-5del rs756429071
NM_025132.4(WDR19):c.2730-5dup
NM_025132.4(WDR19):c.3566-10del

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