ClinVar Miner

List of variants in gene RECQL4 studied for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) rs146398243 0.00122
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_004260.4(RECQL4):c.1847A>G (p.Asn616Ser) rs199654783 0.00073
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00063
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.286C>A (p.Arg96=) rs375568877 0.00043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_004260.4(RECQL4):c.2473C>G (p.Leu825Val) rs371519199 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.663C>T (p.Ile221=) rs367960606 0.00029
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405 0.00024
NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr) rs970075256 0.00024
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) rs34633809 0.00023
NM_004260.4(RECQL4):c.944C>T (p.Ser315Leu) rs376493359 0.00021
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004260.4(RECQL4):c.1581G>A (p.Thr527=) rs367559988 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004260.4(RECQL4):c.1237G>A (p.Ala413Thr) rs531310005 0.00015
NM_004260.4(RECQL4):c.1238C>G (p.Ala413Gly) rs560681030 0.00015
NM_004260.4(RECQL4):c.2748G>A (p.Pro916=) rs370679924 0.00015
NM_004260.4(RECQL4):c.3573C>T (p.Ser1191=) rs199885535 0.00014
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln) rs190061994 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.2670C>T (p.Ala890=) rs780935988 0.00011
NM_004260.4(RECQL4):c.2769G>A (p.Leu923=) rs368618566 0.00011
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.2118C>T (p.Tyr706=) rs574326650 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg) rs571635676 0.00009
NM_004260.4(RECQL4):c.633T>C (p.Asp211=) rs571624962 0.00009
NM_004260.4(RECQL4):c.681C>T (p.Val227=) rs567959067 0.00009
NM_004260.4(RECQL4):c.3431G>A (p.Arg1144His) rs746892308 0.00008
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_004260.4(RECQL4):c.3512G>A (p.Cys1171Tyr) rs748529710 0.00007
NM_004260.4(RECQL4):c.1284T>C (p.Val428=) rs766635144 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2235C>T (p.His745=) rs372501393 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 0.00006
NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=) rs769367312 0.00006
NM_004260.4(RECQL4):c.444C>T (p.Val148=) rs559167672 0.00006
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2176G>A (p.Ala726Thr) rs766748490 0.00005
NM_004260.4(RECQL4):c.2385C>T (p.Phe795=) rs587778644 0.00005
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln) rs750261857 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.2756-6C>T rs369289550 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004260.4(RECQL4):c.1071C>T (p.Asn357=) rs747857375 0.00003
NM_004260.4(RECQL4):c.1259-12T>C rs539767366 0.00003
NM_004260.4(RECQL4):c.1530G>C (p.Leu510=) rs372597841 0.00003
NM_004260.4(RECQL4):c.1621-9C>T rs758888472 0.00003
NM_004260.4(RECQL4):c.1626T>C (p.Ser542=) rs754134346 0.00003
NM_004260.4(RECQL4):c.1755G>T (p.Val585=) rs539370260 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.2692A>G (p.Met898Val) rs776189878 0.00003
NM_004260.4(RECQL4):c.2754G>A (p.Glu918=) rs1060501377 0.00003
NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221 0.00003
NM_004260.4(RECQL4):c.3212G>A (p.Arg1071His) rs773856131 0.00003
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.3502+10G>A rs908693736 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004260.4(RECQL4):c.909A>G (p.Val303=) rs377295171 0.00003
NM_004260.4(RECQL4):c.1394C>T (p.Thr465Met) rs899474226 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2464-4G>A rs371431265 0.00002
NM_004260.4(RECQL4):c.2493T>C (p.His831=) rs780421783 0.00002
NM_004260.4(RECQL4):c.251G>C (p.Arg84Pro) rs745596664 0.00002
NM_004260.4(RECQL4):c.2735C>T (p.Ala912Val) rs752408076 0.00002
NM_004260.4(RECQL4):c.2849C>G (p.Pro950Arg) rs769664095 0.00002
NM_004260.4(RECQL4):c.3282G>A (p.Glu1094=) rs752540498 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004260.4(RECQL4):c.1072A>G (p.Met358Val) rs371503929 0.00001
NM_004260.4(RECQL4):c.1123C>T (p.Arg375Cys) rs746423729 0.00001
NM_004260.4(RECQL4):c.1484-12C>T rs775255999 0.00001
NM_004260.4(RECQL4):c.1837T>C (p.Trp613Arg) rs1394819507 0.00001
NM_004260.4(RECQL4):c.1946C>G (p.Ala649Gly) rs1451532258 0.00001
NM_004260.4(RECQL4):c.2046G>A (p.Arg682=) rs558318269 0.00001
NM_004260.4(RECQL4):c.2101G>A (p.Asp701Asn) rs1182814326 0.00001
NM_004260.4(RECQL4):c.2141A>G (p.Glu714Gly) rs766703250 0.00001
NM_004260.4(RECQL4):c.2201-8C>T rs200942592 0.00001
NM_004260.4(RECQL4):c.2343A>G (p.Pro781=) rs1060504215 0.00001
NM_004260.4(RECQL4):c.2437C>T (p.His813Tyr) rs945709072 0.00001
NM_004260.4(RECQL4):c.2617C>G (p.Pro873Ala) rs751230101 0.00001
NM_004260.4(RECQL4):c.264G>C (p.Lys88Asn) rs750999910 0.00001
NM_004260.4(RECQL4):c.2774G>A (p.Cys925Tyr) rs1358613276 0.00001
NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter) rs368081792 0.00001
NM_004260.4(RECQL4):c.2871G>A (p.Gln957=) rs548485975 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3554G>C (p.Arg1185Thr) rs774756135 0.00001
NM_004260.4(RECQL4):c.357C>T (p.Ala119=) rs758460596 0.00001
NM_004260.4(RECQL4):c.535C>T (p.Leu179=) rs1308038651 0.00001
NM_004260.4(RECQL4):c.806G>C (p.Trp269Ser) rs137853231 0.00001
NM_004260.4(RECQL4):c.808G>A (p.Glu270Lys) rs1344294148 0.00001
NM_004260.4(RECQL4):c.1012C>A (p.Pro338Thr) rs754299237
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1131+9G>A rs373765596
NM_004260.4(RECQL4):c.1131_1131+3del rs1060501353
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1266G>A (p.Glu422=) rs2130709010
NM_004260.4(RECQL4):c.1484-11G>A rs376242705
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1637C>G (p.Pro546Arg) rs377298374
NM_004260.4(RECQL4):c.1744G>A (p.Glu582Lys) rs2130696532
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=) rs369939552
NM_004260.4(RECQL4):c.1934C>G (p.Thr645Arg) rs1827786205
NM_004260.4(RECQL4):c.2059-12G>C rs112797566
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2415C>A (p.Ala805=) rs34735741
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2634C>G (p.Pro878=) rs769166199
NM_004260.4(RECQL4):c.2700T>C (p.His900=) rs1554897521
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu) rs370867731
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3239T>C (p.Val1080Ala) rs757086331
NM_004260.4(RECQL4):c.3394-8C>T rs2130652353
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3443C>A (p.Ser1148Tyr) rs35346077
NM_004260.4(RECQL4):c.3471_3472insG (p.Arg1158fs) rs2130651375
NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro) rs535259922
NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.391G>A (p.Gly131Arg) rs561427528
NM_004260.4(RECQL4):c.645G>A (p.Glu215=) rs550208182
NM_004260.4(RECQL4):c.903A>T (p.Glu301Asp) rs746200109
NM_004260.4(RECQL4):c.982G>C (p.Ala328Pro) rs2130718555

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.