ClinVar Miner

List of variants in gene ATR reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001184.3(ATR):c.-91C>G rs189343119 0.00159
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001184.4(ATR):c.7041+8G>A rs201106004 0.00104
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 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_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878 0.00056
NM_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
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.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_001184.4(ATR):c.*72T>G rs750327573 0.00035
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.2205C>T (p.His735=) rs148955716 0.00029
NM_001184.4(ATR):c.3581+5A>G rs369917154 0.00029
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs202162034 0.00027
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_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.6226C>G (p.Leu2076Val) rs372864251 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_001184.4(ATR):c.437C>A (p.Thr146Lys) rs368592452 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_001184.4(ATR):c.2532+4G>A rs190596919 0.00009
NM_001184.4(ATR):c.7041+4G>C rs113544835 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_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.4730G>T (p.Ser1577Ile) rs140533205 0.00006
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827 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_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_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_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.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_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.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.5900G>A (p.Gly1967Asp) rs751198306 0.00001
NM_001184.4(ATR):c.5996A>G (p.His1999Arg) rs764703895 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_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.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

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