ClinVar Miner

List of variants reported as benign for Seckel syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_001042384.2(CEP63):c.1330-16A>G rs4586863 0.98825
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro) rs12882191 0.79682
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) rs2073347 0.78250
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_001813.3(CENPE):c.2025G>A (p.Gln675=) rs2251634 0.45048
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_018451.5(CENPJ):c.*683dup rs397718122 0.33944
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929 0.33689
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_020921.4(NIN):c.6192+12C>T rs1983764 0.27302
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_005879.3(TRAIP):c.240+45G>A rs13316065 0.24391
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.19347
NM_020921.4(NIN):c.1775-26G>C rs12883882 0.19247
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_001813.3(CENPE):c.243T>C (p.Thr81=) rs2290943 0.15958
NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met) rs2243682 0.15371
NM_001813.3(CENPE):c.5502G>A (p.Thr1834=) rs1381658 0.13921
NM_005879.3(TRAIP):c.1362A>C (p.Thr454=) rs35129566 0.13635
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04528
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001184.4(ATR):c.293-20C>T rs115097590 0.01504
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01173
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_018451.5(CENPJ):c.3367-12T>C rs3742163 0.00421
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_018451.5(CENPJ):c.*570T>C rs139596189 0.00313
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_001184.4(ATR):c.2637C>T (p.Ala879=) rs150512706 0.00105
NM_001184.4(ATR):c.4200A>T (p.Leu1400=) rs150562945 0.00101
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_001184.4(ATR):c.3702C>T (p.Phe1234=) rs146222193 0.00090
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_001184.4(ATR):c.993C>T (p.Asp331=) rs139379319 0.00058
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00029
NM_001184.4(ATR):c.4641+9A>G rs369284360 0.00015
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001184.4(ATR):c.7192+18T>C rs1349447137 0.00001
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.4153-10del rs112116713
NM_001184.4(ATR):c.5739-14_5739-9del rs72272981
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994

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