ClinVar Miner

List of variants in gene ATR studied for Seckel syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 427
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
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 0.62531
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_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07904
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04208
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03201
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01813
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01791
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01786
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.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01256
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01183
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01060
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.00959
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00778
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00410
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00386
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00386
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00344
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
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 0.00178
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
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.5987T>C (p.Met1996Thr) rs150339560 0.00102
NM_001184.4(ATR):c.7041+8G>A rs201106004 0.00102
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.2226T>C (p.Cys742=) rs147895945 0.00071
NM_001184.4(ATR):c.5931A>G (p.Gln1977=) rs150964938 0.00069
NM_001184.4(ATR):c.4153-15T>G rs375938610 0.00067
NM_001184.4(ATR):c.993C>T (p.Asp331=) rs139379319 0.00058
NM_001184.4(ATR):c.5601T>C (p.Leu1867=) rs138891875 0.00057
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878 0.00056
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479 0.00055
NM_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_001184.4(ATR):c.*72T>G rs750327573 0.00046
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00042
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser) rs138350940 0.00041
NM_001184.4(ATR):c.7411C>T (p.Leu2471=) rs150286172 0.00041
NM_001184.4(ATR):c.117A>G (p.Gln39=) rs56297030 0.00040
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00039
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509 0.00039
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 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_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.6023G>T (p.Arg2008Leu) rs145569221 0.00036
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669 0.00032
NM_001184.4(ATR):c.1764A>G (p.Glu588=) rs149482096 0.00031
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs202162034 0.00027
NM_001184.4(ATR):c.3581+5A>G rs369917154 0.00027
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716 0.00025
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 0.00018
NM_001184.4(ATR):c.1885+7G>A rs74282951 0.00017
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.3695C>A (p.Ala1232Asp) rs201150434 0.00015
NM_001184.4(ATR):c.3888T>C (p.Asn1296=) rs143268462 0.00015
NM_001184.4(ATR):c.3183A>G (p.Glu1061=) rs138025798 0.00014
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) rs372864251 0.00014
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383 0.00013
NM_001184.4(ATR):c.4641+9A>G rs369284360 0.00013
NM_001184.4(ATR):c.7349+2T>C rs200556378 0.00013
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_001184.4(ATR):c.437C>A (p.Thr146Lys) rs368592452 0.00011
NM_001184.4(ATR):c.4944C>G (p.Ser1648=) rs200668215 0.00011
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116 0.00011
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu) rs200491706 0.00010
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00010
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.6897+464C>G rs587777852 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.7839G>A (p.Pro2613=) rs371176601 0.00009
NM_001184.4(ATR):c.6G>T (p.Gly2=) rs143306360 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001184.4(ATR):c.1359T>G (p.His453Gln) rs202239914 0.00007
NM_001184.4(ATR):c.3327C>T (p.Gly1109=) rs147717467 0.00007
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142 0.00007
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827 0.00007
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) rs374127772 0.00007
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.241C>T (p.Leu81Phe) rs147353060 0.00005
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250 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.4267-12A>G rs374421247 0.00005
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile) rs140533205 0.00005
NM_001184.4(ATR):c.6327C>T (p.Arg2109=) rs147210068 0.00005
NM_001184.4(ATR):c.6459C>T (p.His2153=) rs374110291 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.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.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.7425C>T (p.Asp2475=) rs749493772 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_001184.4(ATR):c.1182C>T (p.Gly394=) rs761676898 0.00003
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103 0.00003
NM_001184.4(ATR):c.1791A>G (p.Pro597=) rs535766576 0.00003
NM_001184.4(ATR):c.1843G>A (p.Ala615Thr) rs759350161 0.00003
NM_001184.4(ATR):c.1878T>C (p.Asp626=) rs370033429 0.00003
NM_001184.4(ATR):c.2308C>T (p.Leu770=) rs765405340 0.00003
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163 0.00003
NM_001184.4(ATR):c.2532+8A>G rs553507944 0.00003
NM_001184.4(ATR):c.2922G>A (p.Thr974=) rs763559215 0.00003
NM_001184.4(ATR):c.3340A>G (p.Ile1114Val) rs781663208 0.00003
NM_001184.4(ATR):c.3380T>C (p.Leu1127Ser) rs765465161 0.00003
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027 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.4941C>T (p.Arg1647=) rs186824993 0.00003
NM_001184.4(ATR):c.5145G>A (p.Leu1715=) rs140570011 0.00003
NM_001184.4(ATR):c.5889C>T (p.Leu1963=) rs1032716786 0.00003
NM_001184.4(ATR):c.652G>T (p.Ala218Ser) rs978437399 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.7725G>A (p.Ala2575=) rs587783340 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.1142A>T (p.Asp381Val) rs746692662 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.1609T>C (p.Leu537=) rs1577697147 0.00002
NM_001184.4(ATR):c.177T>C (p.Thr59=) rs781380334 0.00002
NM_001184.4(ATR):c.1842C>T (p.Ala614=) rs376207579 0.00002
NM_001184.4(ATR):c.1877A>G (p.Asp626Gly) rs1020231215 0.00002
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys) rs769300741 0.00002
NM_001184.4(ATR):c.2158G>A (p.Gly720Ser) rs143633875 0.00002
NM_001184.4(ATR):c.2464G>A (p.Val822Met) rs369120067 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.303T>C (p.Asn101=) rs1397771631 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.4376A>G (p.Asn1459Ser) rs144591613 0.00002
NM_001184.4(ATR):c.4575C>T (p.Thr1525=) rs776809771 0.00002
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277 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.6855A>G (p.Pro2285=) rs780345174 0.00002
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338 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.102A>G (p.Arg34=) rs778499519 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.1478T>C (p.Ile493Thr) rs2108482764 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.152-9T>C rs748613519 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.1803C>G (p.Ser601=) rs758693664 0.00001
NM_001184.4(ATR):c.1810G>C (p.Asp604His) rs750939829 0.00001
NM_001184.4(ATR):c.1835C>T (p.Thr612Ile) rs2108477446 0.00001
NM_001184.4(ATR):c.1858T>C (p.Leu620=) rs770769122 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.1998A>G (p.Val666=) rs572889042 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.225C>T (p.Ile75=) rs886058059 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.2419G>A (p.Gly807Arg) rs200582541 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.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.3043C>T (p.Arg1015Ter) rs1453839157 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.324G>A (p.Leu108=) rs538761445 0.00001
NM_001184.4(ATR):c.3330G>A (p.Pro1110=) rs771643731 0.00001
NM_001184.4(ATR):c.3335A>G (p.Asp1112Gly) rs778004569 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.3477G>T (p.Met1159Ile) rs587777851 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.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.3820-4A>G rs748067492 0.00001
NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys) rs947429668 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.4306A>G (p.Asn1436Asp) rs587783328 0.00001
NM_001184.4(ATR):c.4314A>G (p.Pro1438=) rs55806603 0.00001
NM_001184.4(ATR):c.431T>G (p.Val144Gly) rs749942139 0.00001
NM_001184.4(ATR):c.4348G>A (p.Val1450Ile) rs755841740 0.00001
NM_001184.4(ATR):c.4356A>G (p.Glu1452=) rs376297401 0.00001
NM_001184.4(ATR):c.4447T>C (p.Leu1483=) rs577577577 0.00001
NM_001184.4(ATR):c.4544G>A (p.Ser1515Asn) rs1346761060 0.00001
NM_001184.4(ATR):c.457T>C (p.Phe153Leu) rs201181535 0.00001
NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys) rs1386387112 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.4809A>G (p.Lys1603=) rs777880900 0.00001
NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro) rs760429299 0.00001
NM_001184.4(ATR):c.4860T>A (p.Thr1620=) rs972989914 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.5217A>G (p.Val1739=) rs759675282 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.5305G>C (p.Glu1769Gln) rs376811787 0.00001
NM_001184.4(ATR):c.5349G>T (p.Gln1783His) rs886058055 0.00001
NM_001184.4(ATR):c.539G>A (p.Ser180Asn) rs2034933781 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.5635G>T (p.Asp1879Tyr) rs387907327 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.5996A>G (p.His1999Arg) rs764703895 0.00001
NM_001184.4(ATR):c.6078+10T>C rs762754313 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.6335G>A (p.Arg2112His) rs535888898 0.00001
NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg) rs2071208734 0.00001
NM_001184.4(ATR):c.6376A>G (p.Ile2126Val) rs370244617 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.6800T>C (p.Ile2267Thr) rs775198036 0.00001
NM_001184.4(ATR):c.6829C>T (p.His2277Tyr) rs755816195 0.00001
NM_001184.4(ATR):c.6877A>G (p.Ile2293Val) rs758772379 0.00001
NM_001184.4(ATR):c.6903A>G (p.Glu2301=) rs779369662 0.00001
NM_001184.4(ATR):c.6960G>A (p.Lys2320=) rs752654793 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.7179A>G (p.Leu2393=) rs2071030538 0.00001
NM_001184.4(ATR):c.7220G>A (p.Arg2407His) rs778835776 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 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.7399G>A (p.Val2467Ile) rs144887641 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.7597C>T (p.Arg2533Ter) rs1196005889 0.00001
NM_001184.4(ATR):c.7617A>G (p.Thr2539=) rs765583100 0.00001
NM_001184.4(ATR):c.7658T>A (p.Val2553Asp) rs1043401586 0.00001
NM_001184.4(ATR):c.7724C>T (p.Ala2575Val) rs762196224 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.7791G>A (p.Gln2597=) rs2108242609 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.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.151+4A>G rs1481733213
NM_001184.4(ATR):c.1575GAA[1] (p.Lys527del) rs2034798916
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.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.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.1991A>G (p.His664Arg) rs1458351462
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
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.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.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.2487G>A (p.Lys829=) rs1387074605
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.2678T>C (p.Leu893Ser) rs2034545465
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.292+15T>G rs886058058
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.3161A>G (p.His1054Arg) rs1000929934
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.3725+2T>C
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.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.4382+6T>C rs758074436
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.4641+1G>T rs797045403
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.4897C>A (p.Leu1633Ile) rs4282075
NM_001184.4(ATR):c.489T>C (p.Asn163=) rs886058057
NM_001184.4(ATR):c.492G>T (p.Val164=) rs768453353
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) rs1553761113
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.5196+1G>A rs1553760567
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.5851C>T (p.Arg1951Ter) 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.5900G>A (p.Gly1967Asp) rs751198306
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.6438C>T (p.Ile2146=) rs2071206365
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.6787C>T (p.Gln2263Ter)
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.6976T>C (p.Cys2326Arg) rs766127973
NM_001184.4(ATR):c.7042-1G>A rs2108266332
NM_001184.4(ATR):c.7192+18T>C rs1349447137
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.7408A>G (p.Ile2470Val) rs2070968355
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.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.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.958A>G (p.Met320Val) rs1467405815
NM_001184.4(ATR):c.965T>C (p.Leu322Pro) rs2108487258

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.