ClinVar Miner

List of variants in gene RECQL4 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
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.1090G>A (p.Val364Met) rs144637135 0.00427
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
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.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.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.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.514C>T (p.Leu172Phe) rs188859497 0.00102
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.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
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.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
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.2261G>A (p.Arg754Gln) rs190061994 0.00013
NM_004260.4(RECQL4):c.3394-9T>G rs746656592 0.00011
NM_004260.4(RECQL4):c.681C>T (p.Val227=) rs567959067 0.00009
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met) rs376587038 0.00002
NM_004260.4(RECQL4):c.3375C>T (p.Pro1125=) rs749208991 0.00002
NM_004260.4(RECQL4):c.2464-8C>T rs373671393 0.00001
NM_004260.4(RECQL4):c.604C>T (p.Leu202=) rs61754062 0.00001
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile) rs2130708945
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1852del (p.Arg618fs) rs909588820
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del) rs2130676571
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.2768T>C (p.Leu923Ser)
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp) rs1276726206
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu) rs753959069

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