ClinVar Miner

List of variants in gene RECQL4 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
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.2755+16dup rs35544622 0.00430
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.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
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.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
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.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
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.3317G>A (p.Arg1106His) rs34236392 0.00053
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.1573del (p.Cys525fs) rs386833845 0.00033
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.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr) rs373705170 0.00011
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 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.1207T>C (p.Cys403Arg) rs754788578 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.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
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.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.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser) rs781105713 0.00003
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.2133G>A (p.Glu711=) rs757809740 0.00001
NM_004260.4(RECQL4):c.2518C>T (p.Leu840=) rs201106179 0.00001
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.4(RECQL4):c.1242C>T (p.Ala414=)
NM_004260.4(RECQL4):c.1246T>C (p.Cys416Arg)
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.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1705-1G>A rs569948031
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
NM_004260.4(RECQL4):c.2112C>A (p.Ile704=) rs368140492
NM_004260.4(RECQL4):c.2148C>T (p.Ile716=) rs772168426
NM_004260.4(RECQL4):c.2211dup (p.Lys738fs) rs1263096303
NM_004260.4(RECQL4):c.2397G>A (p.Val799=) rs1586802025
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs) rs1564794448
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.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3085G>A (p.Glu1029Lys)
NM_004260.4(RECQL4):c.3219C>T (p.Thr1073=) rs769367312
NM_004260.4(RECQL4):c.564T>C (p.Pro188=)
NM_004260.4(RECQL4):c.816C>G (p.Pro272=)

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.