ClinVar Miner

List of variants reported as uncertain significance for Seckel syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 447
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
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_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_001194998.2(CEP152):c.*51G>A rs531632293 0.00138
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
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_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309 0.00094
NM_014985.3(CEP152):c.-130C>T rs548247909 0.00092
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_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) rs148713374 0.00072
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_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_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
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_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
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.4615G>A (p.Gly1539Ser) rs138350940 0.00042
NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu) rs149856006 0.00042
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.6023G>T (p.Arg2008Leu) rs145569221 0.00037
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala) rs78895258 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_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.3581+5A>G rs369917154 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_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766 0.00023
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg) rs141237492 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_001813.3(CENPE):c.80C>T (p.Ala27Val) rs533108216 0.00021
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) rs369234115 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_020921.4(NIN):c.6275C>T (p.Thr2092Ile) rs201013063 0.00017
NM_001184.4(ATR):c.1258C>G (p.Leu420Val) rs377186178 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.4320T>C (p.His1440=) rs372379014 0.00014
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser) rs145433187 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.3799G>A (p.Val1267Ile) rs377689383 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.437C>A (p.Thr146Lys) rs368592452 0.00012
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.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_001813.3(CENPE):c.304C>T (p.His102Tyr) rs758681737 0.00010
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087 0.00010
NM_173685.4(NSMCE2):c.419-18C>T rs372016316 0.00010
NM_001184.4(ATR):c.2532+4G>A rs190596919 0.00009
NM_001184.4(ATR):c.7041+4G>C rs113544835 0.00009
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) rs543250835 0.00009
NM_018451.5(CENPJ):c.*520A>G rs547113186 0.00009
NM_001184.4(ATR):c.1359T>G (p.His453Gln) rs202239914 0.00008
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.7864T>C (p.Tyr2622His) rs374127772 0.00007
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 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.1624A>G (p.Lys542Glu) rs200491706 0.00006
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250 0.00006
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile) rs140533205 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.2984C>T (p.Ala995Val) rs146955708 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_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_001184.4(ATR):c.241C>T (p.Leu81Phe) rs147353060 0.00005
NM_001184.4(ATR):c.3074G>A (p.Arg1025His) rs771309709 0.00005
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_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys) rs192296063 0.00005
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038 0.00004
NM_001184.4(ATR):c.2941G>A (p.Val981Ile) rs369913351 0.00004
NM_001184.4(ATR):c.3380T>C (p.Leu1127Ser) rs765465161 0.00004
NM_001184.4(ATR):c.3945+2dup rs537031994 0.00004
NM_001184.4(ATR):c.3955A>G (p.Ile1319Val) rs1401271172 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.652G>T (p.Ala218Ser) rs978437399 0.00004
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656 0.00004
NM_001184.4(ATR):c.85G>A (p.Val29Ile) rs746600246 0.00004
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) rs374376744 0.00004
NM_001353108.3(CEP63):c.1368A>G (p.Ala456=) rs372685774 0.00004
NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln) rs371924128 0.00004
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 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.3335A>G (p.Asp1112Gly) rs778004569 0.00003
NM_001184.4(ATR):c.3340A>G (p.Ile1114Val) rs781663208 0.00003
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027 0.00003
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_001184.4(ATR):c.5305G>C (p.Glu1769Gln) rs376811787 0.00003
NM_001184.4(ATR):c.6877A>G (p.Ile2293Val) rs758772379 0.00003
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340 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_005879.3(TRAIP):c.1306C>T (p.Arg436Cys) rs536675100 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.1223T>G (p.Ile408Ser) rs370058763 0.00002
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) rs535140939 0.00002
NM_001184.4(ATR):c.2158G>A (p.Gly720Ser) rs143633875 0.00002
NM_001184.4(ATR):c.2638G>A (p.Ala880Thr) rs367864862 0.00002
NM_001184.4(ATR):c.4348G>A (p.Val1450Ile) rs755841740 0.00002
NM_001184.4(ATR):c.4376A>G (p.Asn1459Ser) rs144591613 0.00002
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln) rs886058052 0.00002
NM_001184.4(ATR):c.6335G>A (p.Arg2112His) rs535888898 0.00002
NM_001184.4(ATR):c.6800T>C (p.Ile2267Thr) rs775198036 0.00002
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338 0.00002
NM_001184.4(ATR):c.7220G>A (p.Arg2407His) rs778835776 0.00002
NM_001184.4(ATR):c.967G>C (p.Glu323Gln) rs771042068 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_020921.4(NIN):c.349G>A (p.Val117Met) rs374373270 0.00002
NM_001184.4(ATR):c.109C>A (p.Leu37Met) rs2035133075 0.00001
NM_001184.4(ATR):c.10C>T (p.His4Tyr) rs373534503 0.00001
NM_001184.4(ATR):c.1165G>A (p.Ala389Thr) rs771295593 0.00001
NM_001184.4(ATR):c.121A>G (p.Ile41Val) rs2035132364 0.00001
NM_001184.4(ATR):c.1285C>T (p.Pro429Ser) rs764970007 0.00001
NM_001184.4(ATR):c.1350-3T>C rs587783323 0.00001
NM_001184.4(ATR):c.1368G>A (p.Met456Ile) rs1378223602 0.00001
NM_001184.4(ATR):c.139G>C (p.Asp47His) rs1317279719 0.00001
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.1643G>A (p.Arg548Lys) rs1374321250 0.00001
NM_001184.4(ATR):c.1678G>C (p.Glu560Gln) rs772100771 0.00001
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103 0.00001
NM_001184.4(ATR):c.1810G>C (p.Asp604His) rs750939829 0.00001
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys) rs769300741 0.00001
NM_001184.4(ATR):c.1966T>C (p.Tyr656His) rs1052378174 0.00001
NM_001184.4(ATR):c.196G>A (p.Val66Met) rs758564083 0.00001
NM_001184.4(ATR):c.1972T>C (p.Trp658Arg) rs372411144 0.00001
NM_001184.4(ATR):c.1975G>A (p.Ala659Thr) rs758152041 0.00001
NM_001184.4(ATR):c.2092G>A (p.Asp698Asn) rs1553770633 0.00001
NM_001184.4(ATR):c.2143G>T (p.Val715Phe) rs1177859208 0.00001
NM_001184.4(ATR):c.225C>T (p.Ile75=) rs886058059 0.00001
NM_001184.4(ATR):c.2403T>A (p.Asp801Glu) rs1441471018 0.00001
NM_001184.4(ATR):c.2608A>G (p.Ile870Val) rs763994421 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.2681A>G (p.His894Arg) rs774278641 0.00001
NM_001184.4(ATR):c.2684G>A (p.Cys895Tyr) rs1202782083 0.00001
NM_001184.4(ATR):c.3014A>G (p.Lys1005Arg) rs749139052 0.00001
NM_001184.4(ATR):c.3069C>A (p.Val1023=) rs750797892 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001184.4(ATR):c.31A>G (p.Met11Val) rs1166368568 0.00001
NM_001184.4(ATR):c.324G>A (p.Leu108=) rs538761445 0.00001
NM_001184.4(ATR):c.3364T>A (p.Tyr1122Asn) rs1208889130 0.00001
NM_001184.4(ATR):c.3458A>G (p.Asn1153Ser) rs563040643 0.00001
NM_001184.4(ATR):c.3549A>G (p.Arg1183=) rs754976013 0.00001
NM_001184.4(ATR):c.3584C>T (p.Ala1195Val) rs1389009165 0.00001
NM_001184.4(ATR):c.3611A>G (p.Asp1204Gly) rs749952876 0.00001
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val) rs1300617940 0.00001
NM_001184.4(ATR):c.3727G>T (p.Asp1243Tyr) rs756859157 0.00001
NM_001184.4(ATR):c.3820-4A>G rs748067492 0.00001
NM_001184.4(ATR):c.4035T>A (p.Asp1345Glu) rs983000315 0.00001
NM_001184.4(ATR):c.4061G>C (p.Cys1354Ser) rs1396313983 0.00001
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975 0.00001
NM_001184.4(ATR):c.4301A>C (p.Glu1434Ala) rs1326317682 0.00001
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328 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.4544G>A (p.Ser1515Asn) rs1346761060 0.00001
NM_001184.4(ATR):c.4778G>A (p.Arg1593Lys) rs772382675 0.00001
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277 0.00001
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) rs763130593 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.5732A>G (p.Asn1911Ser) rs587783334 0.00001
NM_001184.4(ATR):c.5869G>A (p.Val1957Met) rs753319463 0.00001
NM_001184.4(ATR):c.59+4G>A rs758046042 0.00001
NM_001184.4(ATR):c.5900G>A (p.Gly1967Asp) rs751198306 0.00001
NM_001184.4(ATR):c.5996A>G (p.His1999Arg) rs764703895 0.00001
NM_001184.4(ATR):c.6079-14G>A rs886058053 0.00001
NM_001184.4(ATR):c.6089C>T (p.Ala2030Val) rs755650081 0.00001
NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp) rs369309229 0.00001
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909 0.00001
NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg) rs2071208734 0.00001
NM_001184.4(ATR):c.647T>C (p.Ile216Thr) rs776894408 0.00001
NM_001184.4(ATR):c.671G>A (p.Arg224Lys) rs771711234 0.00001
NM_001184.4(ATR):c.6775C>G (p.Leu2259Val) rs2071133204 0.00001
NM_001184.4(ATR):c.6829C>T (p.His2277Tyr) rs755816195 0.00001
NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg) rs766127973 0.00001
NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser) rs1029034437 0.00001
NM_001184.4(ATR):c.7349+2T>C rs200556378 0.00001
NM_001184.4(ATR):c.7427G>A (p.Arg2476His) rs777776233 0.00001
NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser) rs373093280 0.00001
NM_001184.4(ATR):c.7658T>A (p.Val2553Asp) rs1043401586 0.00001
NM_001184.4(ATR):c.958A>G (p.Met320Val) rs1467405815 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_001813.3(CENPE):c.7187G>A (p.Ser2396Asn) rs369337735 0.00001
NM_005879.3(TRAIP):c.182A>G (p.Lys61Arg) rs751919007 0.00001
NM_014264.5(PLK4):c.160G>A (p.Val54Ile) rs771069245 0.00001
NM_014264.5(PLK4):c.1935+4A>T rs758425287 0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys) rs773200383 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.2429A>T (p.Asp810Val) rs1021045841 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_001080449.3(DNA2):c.2156G>T (p.Arg719Ile) rs2051805505
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) rs759464271
NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr) rs2133413753
NM_001184.4(ATR):c.-29_-9delinsT rs1577732214
NM_001184.4(ATR):c.1142A>T (p.Asp381Val) rs746692662
NM_001184.4(ATR):c.1328G>A (p.Arg443Lys) rs28367453
NM_001184.4(ATR):c.1403A>G (p.Gln468Arg) rs2034833475
NM_001184.4(ATR):c.1478T>C (p.Ile493Thr) rs2108482764
NM_001184.4(ATR):c.1589T>C (p.Val530Ala) rs2108480297
NM_001184.4(ATR):c.1611G>C (p.Leu537Phe) rs2108480149
NM_001184.4(ATR):c.1620C>T (p.Tyr540=) rs763088062
NM_001184.4(ATR):c.1835C>T (p.Thr612Ile) rs2108477446
NM_001184.4(ATR):c.1846A>G (p.Asn616Asp) rs2108477346
NM_001184.4(ATR):c.1848TCT[1] (p.Leu618del) rs757490543
NM_001184.4(ATR):c.1856C>T (p.Thr619Ile) rs2034769700
NM_001184.4(ATR):c.1860A>C (p.Leu620Phe) rs762564926
NM_001184.4(ATR):c.1877A>G (p.Asp626Gly) rs1020231215
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter) rs1378333855
NM_001184.4(ATR):c.1991A>G (p.His664Arg) rs1458351462
NM_001184.4(ATR):c.2130A>G (p.Ile710Met) rs2034661720
NM_001184.4(ATR):c.214A>G (p.Ile72Val) rs1394561249
NM_001184.4(ATR):c.2158G>C (p.Gly720Arg) rs143633875
NM_001184.4(ATR):c.2162T>C (p.Met721Thr) rs377450037
NM_001184.4(ATR):c.2261C>T (p.Ser754Leu) rs749078940
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.2327G>C (p.Ser776Thr) rs979155439
NM_001184.4(ATR):c.2360A>G (p.His787Arg) rs779898609
NM_001184.4(ATR):c.2419G>A (p.Gly807Arg) rs200582541
NM_001184.4(ATR):c.2493A>G (p.Ile831Met) rs756567587
NM_001184.4(ATR):c.2503T>G (p.Leu835Val) rs377134163
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.3025G>A (p.Ala1009Thr) rs2034402314
NM_001184.4(ATR):c.3161A>G (p.His1054Arg) rs1000929934
NM_001184.4(ATR):c.3193G>A (p.Gly1065Arg) rs1577675053
NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser) rs2034328286
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del) rs779715723
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.3524T>C (p.Met1175Thr) rs2108438183
NM_001184.4(ATR):c.3559G>T (p.Asp1187Tyr) rs765890919
NM_001184.4(ATR):c.3586T>G (p.Trp1196Gly) rs2108433026
NM_001184.4(ATR):c.384T>G (p.Cys128Trp) rs754728006
NM_001184.4(ATR):c.390A>T (p.Leu130Phe) rs2108488701
NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys) rs947429668
NM_001184.4(ATR):c.4007T>A (p.Val1336Glu) rs2033272014
NM_001184.4(ATR):c.4043C>T (p.Ser1348Phe) rs2108399551
NM_001184.4(ATR):c.4057C>A (p.Leu1353Ile) rs766616536
NM_001184.4(ATR):c.4130A>G (p.Gln1377Arg) rs2108399250
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.4382+6T>C rs758074436
NM_001184.4(ATR):c.4442G>A (p.Ser1481Asn) rs2032818637
NM_001184.4(ATR):c.4562A>C (p.Asp1521Ala) rs2032702060
NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys) rs1386387112
NM_001184.4(ATR):c.4703A>T (p.Asp1568Val) rs929755679
NM_001184.4(ATR):c.4706T>A (p.Ile1569Asn) rs2108372168
NM_001184.4(ATR):c.4792G>A (p.Ala1598Thr) rs187734529
NM_001184.4(ATR):c.4792G>T (p.Ala1598Ser) rs187734529
NM_001184.4(ATR):c.4846T>C (p.Ser1616Pro) rs201492267
NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro) rs760429299
NM_001184.4(ATR):c.4897C>A (p.Leu1633Ile) rs4282075
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.5078G>A (p.Ser1693Asn) rs1375119564
NM_001184.4(ATR):c.539G>A (p.Ser180Asn) rs2034933781
NM_001184.4(ATR):c.5733C>A (p.Asn1911Lys) rs766428193
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.5852G>A (p.Arg1951Gln) rs745882886
NM_001184.4(ATR):c.5857G>A (p.Ala1953Thr) rs2031648536
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.590T>C (p.Met197Thr) rs2108488175
NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg) rs2108326114
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.6376A>G (p.Ile2126Val) rs370244617
NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp) rs2071170618
NM_001184.4(ATR):c.6635T>C (p.Val2212Ala) rs2108275967
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe) rs2071168591
NM_001184.4(ATR):c.6880G>T (p.Ala2294Ser) rs370379866
NM_001184.4(ATR):c.7250T>C (p.Leu2417Ser) rs2070974907
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup) rs756975919
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile) rs144887641
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val) rs2070968355
NM_001184.4(ATR):c.7426C>A (p.Arg2476Ser) rs376735982
NM_001184.4(ATR):c.7732A>T (p.Asn2578Tyr) rs1309520394
NM_001184.4(ATR):c.7780G>C (p.Asp2594His) rs1227410272
NM_001184.4(ATR):c.847A>C (p.Met283Leu) rs1559998542
NM_001184.4(ATR):c.943C>G (p.Pro315Ala) rs2034917114
NM_001184.4(ATR):c.965T>C (p.Leu322Pro) rs2108487258
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
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.2563-11A>G
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.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
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_001353108.3(CEP63):c.1973C>A (p.Pro658His) rs781235688
NM_001353108.3(CEP63):c.790-11C>G
NM_001813.3(CENPE):c.1722+5G>A rs1754632871
NM_001813.3(CENPE):c.2748dup (p.Leu917fs)
NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)
NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys) rs114399328
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.428+6T>C
NM_005879.3(TRAIP):c.868C>A (p.Arg290Ser)
NM_005879.3(TRAIP):c.989C>T (p.Ser330Phe)
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) rs1734999708
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*316G>A rs1953900248
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_2992-17del 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.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.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673
NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn) rs866350711
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe) rs151233126
NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)
NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)
NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln) rs200441923
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr) rs746545242

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