ClinVar Miner

List of variants in gene RECQL4 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_004260.4(RECQL4):c.2059-16A>G rs35334991 0.01521
NM_004260.4(RECQL4):c.1258+91G>T rs34038879 0.01168
NM_004260.4(RECQL4):c.355-37C>T rs34116880 0.01161
NM_004260.4(RECQL4):c.2058+47T>C rs752664060 0.01083
NM_004260.4(RECQL4):c.1620+82C>T rs34381903 0.01046
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1258+104C>T rs34607025 0.00960
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.2463+7A>C rs767159855 0.00691
NM_004260.4(RECQL4):c.1620+33A>T rs35530621 0.00680
NM_004260.4(RECQL4):c.1132-23C>G rs35481163 0.00679
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
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.3394-39C>T rs188078422 0.00321
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.3058G>A (p.Val1020Met) rs114149451 0.00287
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.3394-11T>C rs370677156 0.00158
NM_004260.4(RECQL4):c.2058+44G>C rs757279463 0.00142
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.1847A>G (p.Asn616Ser) rs199654783 0.00073
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.3009G>A (p.Val1003=) rs34919378 0.00062
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.2724T>C (p.Leu908=) rs368908286 0.00034
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.1779C>T (p.Ala593=) rs369939552 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.3402T>C (p.Asp1134=) rs371037028 0.00025
NM_004260.4(RECQL4):c.1864C>T (p.Leu622=) rs373717016 0.00019
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
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.2070G>A (p.Thr690=) rs779945948 0.00014
NM_004260.4(RECQL4):c.2769G>A (p.Leu923=) rs368618566 0.00011
NM_004260.4(RECQL4):c.2118C>T (p.Tyr706=) rs574326650 0.00009
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004260.4(RECQL4):c.1284T>C (p.Val428=) rs766635144 0.00006
NM_004260.4(RECQL4):c.1869C>T (p.Arg623=) rs368736533 0.00006
NM_004260.4(RECQL4):c.2196T>A (p.Ser732=) rs373197205 0.00006
NM_004260.4(RECQL4):c.2499C>T (p.His833=) rs377593129 0.00006
NM_004260.4(RECQL4):c.444C>T (p.Val148=) rs559167672 0.00006
NM_004260.4(RECQL4):c.3363C>T (p.Asp1121=) rs148752485 0.00005
NM_004260.4(RECQL4):c.2109T>C (p.Ile703=) rs759753484 0.00004
NM_004260.4(RECQL4):c.2424C>T (p.Asp808=) rs377301609 0.00004
NM_004260.4(RECQL4):c.2799C>T (p.His933=) rs769613313 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_004260.4(RECQL4):c.634C>T (p.Leu212=) rs377012693 0.00004
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.1140G>A (p.Lys380=) rs1159732841 0.00001
NM_004260.4(RECQL4):c.1347C>T (p.Thr449=) rs200763671 0.00001
NM_004260.4(RECQL4):c.1879-14C>T rs757633347 0.00001
NM_004260.4(RECQL4):c.2133G>A (p.Glu711=) rs757809740 0.00001
NM_004260.4(RECQL4):c.2157C>T (p.Leu719=) rs781172674 0.00001
NM_004260.4(RECQL4):c.2518C>T (p.Leu840=) rs201106179 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.3348G>A (p.Pro1116=) rs368712314 0.00001
NM_004260.4(RECQL4):c.789A>G (p.Arg263=) rs1430320264 0.00001
NM_004260.4(RECQL4):c.1038C>T (p.Ala346=) rs1814890207
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1242C>T (p.Ala414=)
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1621-180_1621-179del rs139872507
NM_004260.4(RECQL4):c.2058+98A>T rs2620653
NM_004260.4(RECQL4):c.2059-26_2059-20del rs145577986
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2112C>A (p.Ile704=) rs368140492
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2148C>T (p.Ile716=) rs772168426
NM_004260.4(RECQL4):c.2361G>C (p.Leu787=) rs1586802335
NM_004260.4(RECQL4):c.2397G>A (p.Val799=) rs1586802025
NM_004260.4(RECQL4):c.240C>G (p.Pro80=) rs878854646
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004260.4(RECQL4):c.2547G>A (p.Val849=)
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.291C>T (p.Ser97=) rs762806249
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3210G>T (p.Leu1070=) rs539631209
NM_004260.4(RECQL4):c.3219C>T (p.Thr1073=) rs769367312
NM_004260.4(RECQL4):c.355-24G>C rs35058172
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.520C>T (p.His174Tyr) rs369382124
NM_004260.4(RECQL4):c.564T>C (p.Pro188=)
NM_004260.4(RECQL4):c.645G>A (p.Glu215=) rs550208182
NM_004260.4(RECQL4):c.708C>T (p.Gly236=) rs1586824439
NM_004260.4(RECQL4):c.816C>G (p.Pro272=)
NM_004260.4(RECQL4):c.951C>T (p.Pro317=)

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