ClinVar Miner

List of variants studied for Seckel syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
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_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
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_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
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_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_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.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_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_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
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_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_001184.3(ATR):c.-91C>G rs189343119 0.00159
NM_018451.5(CENPJ):c.*303C>A rs886050094 0.00157
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_001194998.2(CEP152):c.*51G>A rs531632293 0.00138
NM_018451.5(CENPJ):c.*556A>C rs188324716 0.00124
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln) rs201942310 0.00118
NM_001184.4(ATR):c.7041+8G>A rs201106004 0.00104
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875 0.00096
NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309 0.00094
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025 0.00094
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_014985.3(CEP152):c.-130C>T rs548247909 0.00092
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn) rs200227733 0.00073
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 0.00071
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_001184.4(ATR):c.4153-15T>G rs375938610 0.00067
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479 0.00058
NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu) rs142535552 0.00058
NM_018451.5(CENPJ):c.*779A>T rs183612636 0.00057
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878 0.00056
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_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu) rs141844033 0.00046
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 0.00041
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509 0.00039
NM_001184.4(ATR):c.2946C>T (p.Phe982=) rs138061993 0.00037
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_001184.4(ATR):c.*72T>G rs750327573 0.00035
NM_001184.4(ATR):c.6221+3G>A rs200980335 0.00034
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_018451.5(CENPJ):c.*541T>C rs533142063 0.00034
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669 0.00032
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_001184.4(ATR):c.1764A>G (p.Glu588=) rs149482096 0.00031
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716 0.00029
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00029
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala) rs200883218 0.00028
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs202162034 0.00027
NM_001194998.2(CEP152):c.*7T>C rs189659093 0.00025
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766 0.00023
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=) rs113239817 0.00023
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln) rs199948706 0.00022
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val) rs143806447 0.00021
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_001184.4(ATR):c.4592A>G (p.His1531Arg) rs200070057 0.00019
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103 0.00019
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941 0.00019
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686 0.00019
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641 0.00016
NM_001194998.2(CEP152):c.2826C>T (p.Asn942=) rs200733310 0.00016
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) rs199917740 0.00016
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767 0.00015
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) rs372864251 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.4320T>C (p.His1440=) rs372379014 0.00014
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser) rs145433187 0.00014
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp) rs150608591 0.00014
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_001184.4(ATR):c.1885+7G>A rs74282951 0.00013
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142 0.00013
NM_018451.5(CENPJ):c.-98G>A rs551938674 0.00013
NM_001184.4(ATR):c.6090G>A (p.Ala2030=) rs201988169 0.00012
NM_018451.5(CENPJ):c.3825-11A>T rs527946206 0.00012
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln) rs371350410 0.00011
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985 0.00011
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123 0.00011
NM_018451.5(CENPJ):c.*890T>C rs17480581 0.00011
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087 0.00010
NM_001184.4(ATR):c.2532+4G>A rs190596919 0.00009
NM_001194998.2(CEP152):c.*255T>C rs187213125 0.00009
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_018451.5(CENPJ):c.*520A>G rs547113186 0.00009
NM_001184.4(ATR):c.6G>T (p.Gly2=) rs143306360 0.00008
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548 0.00008
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786 0.00008
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116 0.00007
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) rs374127772 0.00007
NM_018451.5(CENPJ):c.*721G>A rs755143149 0.00007
NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu) rs201828176 0.00007
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250 0.00006
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827 0.00006
NM_001194998.2(CEP152):c.*231C>T rs531587783 0.00006
NM_001194998.2(CEP152):c.1578-6C>G rs80239443 0.00006
NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) rs138151279 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) rs773013405 0.00006
NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=) rs182367234 0.00006
NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) rs771595097 0.00006
NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe) rs558449977 0.00006
NM_018451.5(CENPJ):c.865+8A>G rs373509972 0.00006
NM_001184.4(ATR):c.6960G>A (p.Lys2320=) rs752654793 0.00005
NM_001194998.2(CEP152):c.2438T>C (p.Ile813Thr) rs188605689 0.00005
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038 0.00004
NM_001184.4(ATR):c.3945+2dup rs537031994 0.00004
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys) rs766604943 0.00004
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys) rs377386677 0.00004
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656 0.00004
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) rs374376744 0.00004
NM_018451.5(CENPJ):c.*206A>G rs1011088030 0.00004
NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) rs146950242 0.00004
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163 0.00003
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027 0.00003
NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) rs776999918 0.00003
NM_001194998.2(CEP152):c.930A>T (p.Ala310=) rs779255588 0.00003
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167 0.00003
NM_018451.5(CENPJ):c.4016G>A (p.Ter1339=) rs768167259 0.00003
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308 0.00003
NM_001184.4(ATR):c.*102C>T rs532662296 0.00002
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp) rs886058056 0.00002
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) rs535140939 0.00002
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln) rs886058052 0.00002
NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) rs377258492 0.00002
NM_001194998.2(CEP152):c.438T>A (p.Leu146=) rs369129204 0.00002
NM_018451.5(CENPJ):c.*26C>T rs372867684 0.00002
NM_018451.5(CENPJ):c.*569A>G rs544072060 0.00002
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639 0.00002
NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) rs768682361 0.00002
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys) rs199749446 0.00002
NM_018451.5(CENPJ):c.3618+7T>C rs769845659 0.00002
NM_018451.5(CENPJ):c.3965G>A (p.Arg1322Gln) rs775936765 0.00002
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile) rs750056135 0.00001
NM_001184.4(ATR):c.152-9T>C rs748613519 0.00001
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103 0.00001
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys) rs769300741 0.00001
NM_001184.4(ATR):c.225C>T (p.Ile75=) rs886058059 0.00001
NM_001184.4(ATR):c.260G>T (p.Ser87Ile) rs200407265 0.00001
NM_001184.4(ATR):c.2634-1G>A rs372271245 0.00001
NM_001184.4(ATR):c.3069C>A (p.Val1023=) rs750797892 0.00001
NM_001184.4(ATR):c.324G>A (p.Leu108=) rs538761445 0.00001
NM_001184.4(ATR):c.3549A>G (p.Arg1183=) rs754976013 0.00001
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val) rs1300617940 0.00001
NM_001184.4(ATR):c.3820-4A>G rs748067492 0.00001
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975 0.00001
NM_001184.4(ATR):c.431T>G (p.Val144Gly) rs749942139 0.00001
NM_001184.4(ATR):c.436A>G (p.Thr146Ala) rs765018743 0.00001
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277 0.00001
NM_001184.4(ATR):c.5349G>T (p.Gln1783His) rs886058055 0.00001
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro) rs145185913 0.00001
NM_001184.4(ATR):c.59+4G>A rs758046042 0.00001
NM_001184.4(ATR):c.6079-14G>A rs886058053 0.00001
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909 0.00001
NM_001184.4(ATR):c.7349+2T>C rs200556378 0.00001
NM_001194998.2(CEP152):c.*33A>G rs766414465 0.00001
NM_001194998.2(CEP152):c.*73A>C rs886051259 0.00001
NM_001194998.2(CEP152):c.1100C>A (p.Thr367Lys) rs372764060 0.00001
NM_001194998.2(CEP152):c.1650A>G (p.Val550=) rs370925576 0.00001
NM_001194998.2(CEP152):c.172G>A (p.Glu58Lys) rs755782063 0.00001
NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp) rs145813772 0.00001
NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) rs771359060 0.00001
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) rs1042361244 0.00001
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507 0.00001
NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) rs778040674 0.00001
NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) rs750366915 0.00001
NM_001194998.2(CEP152):c.4242G>A (p.Arg1414=) rs1892781110 0.00001
NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) rs776286310 0.00001
NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) rs749959761 0.00001
NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn) rs1897106202 0.00001
NM_014985.3(CEP152):c.-164T>C rs886051268 0.00001
NM_018451.5(CENPJ):c.*124G>A rs886050097 0.00001
NM_018451.5(CENPJ):c.*292A>T rs886050095 0.00001
NM_018451.5(CENPJ):c.1248T>C (p.Asp416=) rs542731735 0.00001
NM_018451.5(CENPJ):c.3105C>T (p.Asn1035=) rs769070143 0.00001
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys) rs751422006 0.00001
NM_018451.5(CENPJ):c.3350A>G (p.Asn1117Ser) rs768507623 0.00001
NM_018451.5(CENPJ):c.3654G>A (p.Thr1218=) rs765299653 0.00001
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101 0.00001
NM_001184.4(ATR):c.-29_-9delinsT rs1577732214
NM_001184.4(ATR):c.1620C>T (p.Tyr540=) rs763088062
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter) rs1378333855
NM_001184.4(ATR):c.2162T>C (p.Met721Thr) rs377450037
NM_001184.4(ATR):c.2493A>G (p.Ile831Met) rs756567587
NM_001184.4(ATR):c.2532+8A>G rs553507944
NM_001184.4(ATR):c.2678T>C (p.Leu893Ser) rs2034545465
NM_001184.4(ATR):c.292+15T>G rs886058058
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.3161A>G (p.His1054Arg) rs1000929934
NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp) rs1442649106
NM_001184.4(ATR):c.3497A>C (p.His1166Pro) rs201438783
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.4382+6T>C rs758074436
NM_001184.4(ATR):c.489T>C (p.Asn163=) rs886058057
NM_001184.4(ATR):c.5004T>C (p.Asn1668=) rs2032341763
NM_001184.4(ATR):c.539G>A (p.Ser180Asn) rs2034933781
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr) rs757634741
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln) rs145569221
NM_001184.4(ATR):c.6078+10T>C rs762754313
NM_001184.4(ATR):c.6079-6T>A rs2030840898
NM_001184.4(ATR):c.6198G>C (p.Arg2066=) rs758666784
NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp) rs2071170618
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe) rs2071168591
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup) rs756975919
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1111G>A (p.Glu371Lys) rs538717531
NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) rs886051265
NM_001194998.2(CEP152):c.133G>C (p.Asp45His) rs200227733
NM_001194998.2(CEP152):c.192A>C (p.Gln64His) rs1340289334
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2647G>A (p.Glu883Lys) rs1894576215
NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) rs886051260
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met) rs909160279
NM_001194998.2(CEP152):c.87G>A (p.Glu29=) rs1897931321
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.*316G>A rs1953900248
NM_018451.5(CENPJ):c.*404CT[1] rs141666267
NM_018451.5(CENPJ):c.*464A>G rs886050093
NM_018451.5(CENPJ):c.*593A>C rs1566274398
NM_018451.5(CENPJ):c.*743ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*783C>T rs886050092
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
NM_018451.5(CENPJ):c.221T>C (p.Leu74Pro) rs563391686
NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly) rs1409195287
NM_018451.5(CENPJ):c.2658A>G (p.Glu886=) rs1954501551
NM_018451.5(CENPJ):c.2826-6T>C rs886050099
NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys) rs752166766
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=) rs886050098
NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys) rs1954196857
NM_018451.5(CENPJ):c.3566C>A (p.Thr1189Asn) rs778219526
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3653C>T (p.Thr1218Met) rs149855336
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CENPJ):c.3769C>G (p.Pro1257Ala) rs201774037
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln) rs761333511
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) rs886050102
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673

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