ClinVar Miner

List of variants studied for Seckel syndrome by Genome-Nilou Lab

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 379
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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_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
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_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04528
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
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_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
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_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01173
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_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_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
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_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_001184.4(ATR):c.2844A>C (p.Ala948=) rs147286949 0.00177
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001184.4(ATR):c.6726T>C (p.His2242=) rs56030954 0.00113
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.7632T>A (p.Arg2544=) rs144427735 0.00090
NM_001184.4(ATR):c.195C>T (p.Ser65=) rs139304565 0.00082
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001184.4(ATR):c.5931A>G (p.Gln1977=) rs150964938 0.00069
NM_001184.4(ATR):c.5601T>C (p.Leu1867=) rs138891875 0.00062
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479 0.00058
NM_001184.4(ATR):c.993C>T (p.Asp331=) rs139379319 0.00058
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser) rs138350940 0.00042
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 0.00041
NM_001184.4(ATR):c.7411C>T (p.Leu2471=) rs150286172 0.00041
NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu) rs145569221 0.00037
NM_001184.4(ATR):c.3372A>G (p.Gln1124=) rs142903351 0.00036
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala) rs78895258 0.00036
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00029
NM_001184.4(ATR):c.3581+5A>G rs369917154 0.00029
NM_001184.4(ATR):c.4267-12A>G rs374421247 0.00024
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00023
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln) rs199948706 0.00022
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val) rs143806447 0.00021
NM_001184.4(ATR):c.4592A>G (p.His1531Arg) rs200070057 0.00019
NM_001184.4(ATR):c.1258C>G (p.Leu420Val) rs377186178 0.00016
NM_001184.4(ATR):c.2088C>T (p.Val696=) rs202050285 0.00015
NM_001184.4(ATR):c.3888T>C (p.Asn1296=) rs143268462 0.00015
NM_001184.4(ATR):c.4641+9A>G rs369284360 0.00015
NM_001184.4(ATR):c.3183A>G (p.Glu1061=) rs138025798 0.00014
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142 0.00013
NM_001184.4(ATR):c.437C>A (p.Thr146Lys) rs368592452 0.00012
NM_001184.4(ATR):c.4944C>G (p.Ser1648=) rs200668215 0.00011
NM_001184.4(ATR):c.7839G>A (p.Pro2613=) rs371176601 0.00011
NM_001184.4(ATR):c.2532+4G>A rs190596919 0.00009
NM_001184.4(ATR):c.276C>G (p.Ala92=) rs369461039 0.00009
NM_001184.4(ATR):c.7041+4G>C rs113544835 0.00009
NM_001184.4(ATR):c.7488T>C (p.Asn2496=) rs369200535 0.00009
NM_001184.4(ATR):c.1359T>G (p.His453Gln) rs202239914 0.00008
NM_001184.4(ATR):c.4447T>C (p.Leu1483=) rs577577577 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001184.4(ATR):c.3327C>T (p.Gly1109=) rs147717467 0.00007
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) rs374127772 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.303T>C (p.Asn101=) rs1397771631 0.00006
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile) rs140533205 0.00006
NM_001184.4(ATR):c.6126T>C (p.Leu2042=) rs200445478 0.00006
NM_001184.4(ATR):c.1308G>A (p.Ser436=) rs546642861 0.00005
NM_001184.4(ATR):c.1488C>T (p.Val496=) rs774470632 0.00005
NM_001184.4(ATR):c.1878T>C (p.Asp626=) rs370033429 0.00005
NM_001184.4(ATR):c.241C>T (p.Leu81Phe) rs147353060 0.00005
NM_001184.4(ATR):c.2850G>A (p.Pro950=) rs769928724 0.00005
NM_001184.4(ATR):c.3074G>A (p.Arg1025His) rs771309709 0.00005
NM_001184.4(ATR):c.6327C>T (p.Arg2109=) rs147210068 0.00005
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
NM_001184.4(ATR):c.24G>A (p.Leu8=) rs373166003 0.00004
NM_001184.4(ATR):c.2922G>A (p.Thr974=) rs763559215 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.3891C>T (p.Val1297=) rs535173549 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.4281T>A (p.Ile1427=) rs374108762 0.00004
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys) rs766604943 0.00004
NM_001184.4(ATR):c.5166T>C (p.Tyr1722=) rs368448214 0.00004
NM_001184.4(ATR):c.5217A>G (p.Val1739=) rs759675282 0.00004
NM_001184.4(ATR):c.5271T>C (p.Asn1757=) rs769552527 0.00004
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys) rs377386677 0.00004
NM_001184.4(ATR):c.5316G>A (p.Thr1772=) rs146463402 0.00004
NM_001184.4(ATR):c.652G>T (p.Ala218Ser) rs978437399 0.00004
NM_001184.4(ATR):c.85G>A (p.Val29Ile) rs746600246 0.00004
NM_001184.4(ATR):c.1182C>T (p.Gly394=) rs761676898 0.00003
NM_001184.4(ATR):c.177T>C (p.Thr59=) rs781380334 0.00003
NM_001184.4(ATR):c.1791A>G (p.Pro597=) rs535766576 0.00003
NM_001184.4(ATR):c.1998A>G (p.Val666=) rs572889042 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.4612C>T (p.Leu1538=) rs770454684 0.00003
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_001184.4(ATR):c.5145G>A (p.Leu1715=) rs140570011 0.00003
NM_001184.4(ATR):c.5305G>C (p.Glu1769Gln) rs376811787 0.00003
NM_001184.4(ATR):c.5889C>T (p.Leu1963=) rs1032716786 0.00003
NM_001184.4(ATR):c.6459C>T (p.His2153=) rs374110291 0.00003
NM_001184.4(ATR):c.6877A>G (p.Ile2293Val) rs758772379 0.00003
NM_001184.4(ATR):c.7407T>C (p.Tyr2469=) rs775964355 0.00003
NM_001184.4(ATR):c.7621A>C (p.Arg2541=) rs762108631 0.00003
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.1609T>C (p.Leu537=) rs1577697147 0.00002
NM_001184.4(ATR):c.1803C>G (p.Ser601=) rs758693664 0.00002
NM_001184.4(ATR):c.1842C>T (p.Ala614=) rs376207579 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.2703A>C (p.Ala901=) rs201052932 0.00002
NM_001184.4(ATR):c.3198C>T (p.Ser1066=) rs754127656 0.00002
NM_001184.4(ATR):c.3513G>A (p.Arg1171=) rs1007131838 0.00002
NM_001184.4(ATR):c.3705C>T (p.His1235=) rs745769052 0.00002
NM_001184.4(ATR):c.3963T>C (p.Tyr1321=) rs1295861951 0.00002
NM_001184.4(ATR):c.4308C>T (p.Asn1436=) rs539337477 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.4575C>T (p.Thr1525=) rs776809771 0.00002
NM_001184.4(ATR):c.4809A>G (p.Lys1603=) rs777880900 0.00002
NM_001184.4(ATR):c.5094A>G (p.Ala1698=) rs1331144637 0.00002
NM_001184.4(ATR):c.5856C>T (p.Leu1952=) rs778730760 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.6855A>G (p.Pro2285=) rs780345174 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.7425C>T (p.Asp2475=) rs749493772 0.00002
NM_001184.4(ATR):c.967G>C (p.Glu323Gln) rs771042068 0.00002
NM_001184.4(ATR):c.1002C>T (p.Leu334=) rs1199866818 0.00001
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.1335A>G (p.Pro445=) rs373034384 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.1407A>G (p.Lys469=) rs1426268344 0.00001
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile) rs750056135 0.00001
NM_001184.4(ATR):c.1482T>C (p.Ala494=) rs1485392394 0.00001
NM_001184.4(ATR):c.1503T>A (p.Ala501=) rs747926818 0.00001
NM_001184.4(ATR):c.1566T>C (p.His522=) rs756945349 0.00001
NM_001184.4(ATR):c.1608A>G (p.Ser536=) rs976136379 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.1810G>C (p.Asp604His) rs750939829 0.00001
NM_001184.4(ATR):c.1858T>C (p.Leu620=) rs770769122 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.2073T>A (p.Ile691=) rs773660116 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.2157C>T (p.His719=) rs150161871 0.00001
NM_001184.4(ATR):c.2220C>G (p.Leu740=) rs1456465949 0.00001
NM_001184.4(ATR):c.2382T>C (p.Asp794=) rs1428773406 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.2664A>G (p.Ala888=) rs767374235 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.2691A>G (p.Leu897=) rs762515742 0.00001
NM_001184.4(ATR):c.2856T>A (p.Thr952=) rs1291323281 0.00001
NM_001184.4(ATR):c.2874C>T (p.Asp958=) rs758389323 0.00001
NM_001184.4(ATR):c.2958T>C (p.Asp986=) rs143919996 0.00001
NM_001184.4(ATR):c.2979G>A (p.Arg993=) rs376960547 0.00001
NM_001184.4(ATR):c.3014A>G (p.Lys1005Arg) rs749139052 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.3330G>A (p.Pro1110=) rs771643731 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.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.3690T>C (p.Thr1230=) rs776691983 0.00001
NM_001184.4(ATR):c.3727G>T (p.Asp1243Tyr) rs756859157 0.00001
NM_001184.4(ATR):c.3765A>G (p.Leu1255=) rs758810736 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.4221T>C (p.Tyr1407=) rs777058584 0.00001
NM_001184.4(ATR):c.4260C>T (p.Ala1420=) rs141720641 0.00001
NM_001184.4(ATR):c.4301A>C (p.Glu1434Ala) rs1326317682 0.00001
NM_001184.4(ATR):c.4314A>G (p.Pro1438=) rs55806603 0.00001
NM_001184.4(ATR):c.4356A>G (p.Glu1452=) rs376297401 0.00001
NM_001184.4(ATR):c.4544G>A (p.Ser1515Asn) rs1346761060 0.00001
NM_001184.4(ATR):c.4662A>G (p.Ala1554=) rs758763890 0.00001
NM_001184.4(ATR):c.4746C>T (p.Phe1582=) rs769375698 0.00001
NM_001184.4(ATR):c.4778G>A (p.Arg1593Lys) rs772382675 0.00001
NM_001184.4(ATR):c.4806G>A (p.Glu1602=) rs1559952973 0.00001
NM_001184.4(ATR):c.4860T>A (p.Thr1620=) rs972989914 0.00001
NM_001184.4(ATR):c.4941C>T (p.Arg1647=) rs186824993 0.00001
NM_001184.4(ATR):c.4950A>G (p.Ala1650=) rs149940145 0.00001
NM_001184.4(ATR):c.5133C>T (p.Ser1711=) rs368178207 0.00001
NM_001184.4(ATR):c.5211T>C (p.His1737=) rs370153176 0.00001
NM_001184.4(ATR):c.5292C>T (p.Ser1764=) rs745745176 0.00001
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) rs763130593 0.00001
NM_001184.4(ATR):c.5484A>G (p.Ala1828=) rs765260141 0.00001
NM_001184.4(ATR):c.5562G>A (p.Leu1854=) rs2031699549 0.00001
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro) rs145185913 0.00001
NM_001184.4(ATR):c.5869G>A (p.Val1957Met) rs753319463 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.6089C>T (p.Ala2030Val) rs755650081 0.00001
NM_001184.4(ATR):c.6153C>T (p.Pro2051=) rs572825540 0.00001
NM_001184.4(ATR):c.6183A>G (p.Gln2061=) rs975197304 0.00001
NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp) rs369309229 0.00001
NM_001184.4(ATR):c.624T>A (p.Thr208=) rs866939836 0.00001
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909 0.00001
NM_001184.4(ATR):c.6279A>G (p.Leu2093=) rs766366107 0.00001
NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg) rs2071208734 0.00001
NM_001184.4(ATR):c.6433T>C (p.Leu2145=) rs754739284 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.6786A>G (p.Leu2262=) rs1035476600 0.00001
NM_001184.4(ATR):c.6829C>T (p.His2277Tyr) rs755816195 0.00001
NM_001184.4(ATR):c.6903A>G (p.Glu2301=) rs779369662 0.00001
NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg) rs766127973 0.00001
NM_001184.4(ATR):c.7005T>C (p.Asp2335=) rs773125056 0.00001
NM_001184.4(ATR):c.7077A>G (p.Glu2359=) rs1209398147 0.00001
NM_001184.4(ATR):c.7192+18T>C rs1349447137 0.00001
NM_001184.4(ATR):c.7284C>T (p.Leu2428=) rs752303030 0.00001
NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser) rs1029034437 0.00001
NM_001184.4(ATR):c.7427G>A (p.Arg2476His) rs777776233 0.00001
NM_001184.4(ATR):c.744A>C (p.Ala248=) rs368117837 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.7728A>T (p.Pro2576=) rs764165509 0.00001
NM_001184.4(ATR):c.7770C>T (p.Thr2590=) rs1408082351 0.00001
NM_001184.4(ATR):c.7800A>G (p.Gln2600=) rs746266532 0.00001
NM_001184.4(ATR):c.7899A>G (p.Leu2633=) rs147649584 0.00001
NM_001184.4(ATR):c.829T>C (p.Leu277=) rs775530116 0.00001
NM_001184.4(ATR):c.958A>G (p.Met320Val) rs1467405815 0.00001
NM_001184.4(ATR):c.102A>G (p.Arg34=) rs778499519
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.1338A>G (p.Lys446=) rs1269628278
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.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.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.1991A>G (p.His664Arg) rs1458351462
NM_001184.4(ATR):c.2094T>C (p.Asp698=) rs2108471856
NM_001184.4(ATR):c.2130A>G (p.Ile710Met) rs2034661720
NM_001184.4(ATR):c.2158G>C (p.Gly720Arg) rs143633875
NM_001184.4(ATR):c.2261C>T (p.Ser754Leu) rs749078940
NM_001184.4(ATR):c.2308C>T (p.Leu770=) rs765405340
NM_001184.4(ATR):c.2320dup (p.Ile774fs) rs757500301
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.2409A>G (p.Lys803=) rs766396565
NM_001184.4(ATR):c.2419G>A (p.Gly807Arg) rs200582541
NM_001184.4(ATR):c.2487G>A (p.Lys829=) rs1387074605
NM_001184.4(ATR):c.2503T>G (p.Leu835Val) rs377134163
NM_001184.4(ATR):c.2709C>G (p.Val903=) rs2108462397
NM_001184.4(ATR):c.2892G>A (p.Val964=) rs755008980
NM_001184.4(ATR):c.3025G>A (p.Ala1009Thr) rs2034402314
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.3171+19A>G rs575077685
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.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.3567T>C (p.Pro1189=) rs149882558
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.4153-10del rs112116713
NM_001184.4(ATR):c.4383-19_4383-16del rs768981812
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.4698C>G (p.Thr1566=) rs759372905
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.492G>T (p.Val164=) rs768453353
NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn) rs1375119564
NM_001184.4(ATR):c.5421A>G (p.Leu1807=) rs773935656
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_5739-9del rs72272981
NM_001184.4(ATR):c.5851C>A (p.Arg1951=) rs758234545
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.590T>C (p.Met197Thr) rs2108488175
NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg) rs2108326114
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln) rs145569221
NM_001184.4(ATR):c.6376A>G (p.Ile2126Val) rs370244617
NM_001184.4(ATR):c.6438C>T (p.Ile2146=) rs2071206365
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.6813A>G (p.Pro2271=) rs774286189
NM_001184.4(ATR):c.6880G>T (p.Ala2294Ser) rs370379866
NM_001184.4(ATR):c.7179A>G (p.Leu2393=) rs2071030538
NM_001184.4(ATR):c.7250T>C (p.Leu2417Ser) rs2070974907
NM_001184.4(ATR):c.7311T>C (p.His2437=) rs2108261468
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.7426C>A (p.Arg2476Ser) rs376735982
NM_001184.4(ATR):c.7482T>C (p.Asp2494=) rs2108259913
NM_001184.4(ATR):c.7617A>G (p.Thr2539=) rs765583100
NM_001184.4(ATR):c.7662A>G (p.Leu2554=) rs2108249803
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.7791G>A (p.Gln2597=) rs2108242609
NM_001184.4(ATR):c.7863T>C (p.His2621=) rs2108242260
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_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.3704-14_3704-12del rs34991318

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.