ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1390+2del rs386833843 0.00043
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
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.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748 0.00003
NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter) rs758790200 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter) rs1054186954 0.00002
NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter) rs375236875 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.1435C>T (p.Gln479Ter) rs1254532871 0.00001
NM_004260.4(RECQL4):c.1760del (p.Ala587fs) rs1827833554 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004260.4(RECQL4):c.2161C>T (p.Arg721Ter) rs746691436 0.00001
NM_004260.4(RECQL4):c.2398C>T (p.Gln800Ter) rs1206089987 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter) rs368081792 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter) rs373180788 0.00001
NM_004260.4(RECQL4):c.727C>T (p.Gln243Ter) rs1345625725 0.00001
NM_004260.4(RECQL4):c.752del (p.Ser251fs) rs1064796290 0.00001
NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter) rs934534826 0.00001
NC_000008.10:g.(?_145736809)_(145739655_?)del
NC_000008.10:g.(?_145736814)_(145743168_?)del
NC_000008.10:g.(?_145737562)_145739175del
NC_000008.10:g.(?_145738234)_(145741987_?)del
NC_000008.10:g.(?_145738945)_(145743168_?)del
NC_000008.10:g.(?_145739302)_(145743168_?)del
NC_000008.11:g.(?_144514926)_(144517794_?)del
NC_000008.11:g.144515241CT[1]
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) rs1564804342
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.4(RECQL4):c.1009del (p.Ala337fs)
NM_004260.4(RECQL4):c.1015del (p.Leu339fs) rs1060501384
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1048del (p.Arg350fs) rs770874039
NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs) rs1586821509
NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1097del (p.Gly366fs)
NM_004260.4(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.4(RECQL4):c.1129C>T (p.Gln377Ter) rs372521987
NM_004260.4(RECQL4):c.1131_1131+3del rs1060501353
NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter) rs1360427319
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) rs1564804479
NM_004260.4(RECQL4):c.1162G>T (p.Glu388Ter) rs2130713508
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1187_1188del (p.Thr396fs) rs1828085910
NM_004260.4(RECQL4):c.1203del (p.Glu401fs) rs1220902289
NM_004260.4(RECQL4):c.1209T>A (p.Cys403Ter)
NM_004260.4(RECQL4):c.1211del (p.Phe404fs) rs2130712718
NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs) rs1586819343
NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) rs1554901674
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.1252del (p.Arg418fs)
NM_004260.4(RECQL4):c.1264G>T (p.Glu422Ter)
NM_004260.4(RECQL4):c.1267G>T (p.Glu423Ter) rs1828019195
NM_004260.4(RECQL4):c.1274_1275del (p.Thr425fs)
NM_004260.4(RECQL4):c.1343_1347del (p.Pro448fs)
NM_004260.4(RECQL4):c.1356_1357del (p.Tyr454fs) rs2130707964
NM_004260.4(RECQL4):c.1377_1378del (p.Gly460fs)
NM_004260.4(RECQL4):c.1382del (p.Gln461fs) rs1564802842
NM_004260.4(RECQL4):c.1390+2T>C rs2130707477
NM_004260.4(RECQL4):c.1391-2A>G rs771839491
NM_004260.4(RECQL4):c.1400del (p.Ala467fs) rs1564802464
NM_004260.4(RECQL4):c.1409dup (p.Gln471fs) rs1827984994
NM_004260.4(RECQL4):c.1411C>T (p.Gln471Ter)
NM_004260.4(RECQL4):c.1411del (p.Gln471fs) rs2130706345
NM_004260.4(RECQL4):c.1431del (p.His478fs)
NM_004260.4(RECQL4):c.1443dup (p.Arg482fs)
NM_004260.4(RECQL4):c.1561del (p.Arg521fs) rs2130703373
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1573delinsCCCCC (p.Cys525fs)
NM_004260.4(RECQL4):c.1578del (p.Thr527fs)
NM_004260.4(RECQL4):c.1583del (p.Leu528fs) rs1564801266
NM_004260.4(RECQL4):c.1618C>T (p.Gln540Ter)
NM_004260.4(RECQL4):c.1631dup (p.Pro545fs) rs2130698955
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.4(RECQL4):c.1651del (p.Ala551fs)
NM_004260.4(RECQL4):c.1687G>T (p.Glu563Ter) rs1416634281
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004260.4(RECQL4):c.1711dup (p.Ala571fs)
NM_004260.4(RECQL4):c.1759del (p.Ala587fs) rs1564799470
NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs) rs780542343
NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) rs878854644
NM_004260.4(RECQL4):c.1830dup (p.Ser611fs)
NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter) rs1554899728
NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter) rs1554899720
NM_004260.4(RECQL4):c.1852del (p.Arg618fs) rs909588820
NM_004260.4(RECQL4):c.1860C>A (p.Cys620Ter) rs1827815076
NM_004260.4(RECQL4):c.1861_1862insG (p.Tyr621Ter)
NM_004260.4(RECQL4):c.1888G>T (p.Glu630Ter)
NM_004260.4(RECQL4):c.191C>A (p.Ser64Ter) rs1554904702
NM_004260.4(RECQL4):c.1922_1923del (p.Thr641fs) rs1827788039
NM_004260.4(RECQL4):c.194_200del (p.Leu65fs) rs1554904685
NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter) rs552960344
NM_004260.4(RECQL4):c.198del (p.Ala67fs)
NM_004260.4(RECQL4):c.1990del (p.Leu664fs)
NM_004260.4(RECQL4):c.2013del (p.Thr672fs)
NM_004260.4(RECQL4):c.2026del (p.Leu676fs) rs2130690486
NM_004260.4(RECQL4):c.2051_2052del (p.Thr684fs)
NM_004260.4(RECQL4):c.2053_2054del (p.Asp685fs) rs2130690035
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-76_3204del
NM_004260.4(RECQL4):c.2064_2065del (p.Leu689fs)
NM_004260.4(RECQL4):c.2077C>T (p.Gln693Ter) rs1371868658
NM_004260.4(RECQL4):c.2083A>T (p.Lys695Ter) rs2130684472
NM_004260.4(RECQL4):c.2085del (p.Lys695fs) rs1457411812
NM_004260.4(RECQL4):c.2092C>T (p.Gln698Ter) rs994355873
NM_004260.4(RECQL4):c.2096del (p.Asn699fs) rs2130684253
NM_004260.4(RECQL4):c.2096dup (p.Asn699fs) rs2130684253
NM_004260.4(RECQL4):c.2118C>G (p.Tyr706Ter) rs574326650
NM_004260.4(RECQL4):c.2120_2159del (p.Cys707fs)
NM_004260.4(RECQL4):c.2139dup (p.Glu714fs)
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs) rs746222099
NM_004260.4(RECQL4):c.2183G>A (p.Trp728Ter)
NM_004260.4(RECQL4):c.2184G>A (p.Trp728Ter) rs1466549456
NM_004260.4(RECQL4):c.2211dup (p.Lys738fs) rs1263096303
NM_004260.4(RECQL4):c.2215del (p.Thr739fs) rs2130680809
NM_004260.4(RECQL4):c.2216_2217del (p.Thr739fs)
NM_004260.4(RECQL4):c.221_222del (p.Glu74fs) rs773325186
NM_004260.4(RECQL4):c.2232C>G (p.Tyr744Ter)
NM_004260.4(RECQL4):c.2277dup (p.Phe760fs) rs2130679588
NM_004260.4(RECQL4):c.2288dup (p.Gln764fs) rs2130679413
NM_004260.4(RECQL4):c.2295del (p.Leu765fs)
NM_004260.4(RECQL4):c.2305del (p.Val769fs) rs2130679030
NM_004260.4(RECQL4):c.2322_2325dup (p.Met776fs)
NM_004260.4(RECQL4):c.236_237insCA (p.Pro80fs)
NM_004260.4(RECQL4):c.2374_2375insT (p.Pro792fs) rs2130677764
NM_004260.4(RECQL4):c.2378del (p.Pro793fs)
NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs) rs878854645
NM_004260.4(RECQL4):c.237dup (p.Pro80fs) rs2130736361
NM_004260.4(RECQL4):c.2392_2402dup (p.Val802fs)
NM_004260.4(RECQL4):c.2398_2404del (p.Gln800fs)
NM_004260.4(RECQL4):c.2405_2409dup (p.Arg804fs) rs1827604419
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.2415_2419del (p.Ala805_Gly806insTer) rs1564794448
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs) rs1564794448
NM_004260.4(RECQL4):c.241del (p.His81fs)
NM_004260.4(RECQL4):c.2421_2425del (p.Asp808fs)
NM_004260.4(RECQL4):c.2422del (p.Asp808fs) rs1257273728
NM_004260.4(RECQL4):c.2461C>T (p.Gln821Ter) rs1827595485
NM_004260.4(RECQL4):c.2464-1G>A rs398124117
NM_004260.4(RECQL4):c.2464_2468del (p.Gly822fs)
NM_004260.4(RECQL4):c.2479G>T (p.Glu827Ter)
NM_004260.4(RECQL4):c.2486_2501del (p.Arg829fs)
NM_004260.4(RECQL4):c.2492dup (p.His831fs)
NM_004260.4(RECQL4):c.2518del (p.Leu840fs) rs2130673117
NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter) rs1827556397
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.2552del (p.Pro851fs) rs1024114400
NM_004260.4(RECQL4):c.2631C>G (p.Tyr877Ter) rs762591075
NM_004260.4(RECQL4):c.2636del (p.Pro879fs) rs1215700016
NM_004260.4(RECQL4):c.2636dup (p.Gln880fs) rs1215700016
NM_004260.4(RECQL4):c.2638C>T (p.Gln880Ter) rs2130670832
NM_004260.4(RECQL4):c.2644_2647dup (p.Glu883delinsGlyTer) rs2130670737
NM_004260.4(RECQL4):c.2650C>T (p.Gln884Ter)
NM_004260.4(RECQL4):c.267_268del (p.Pro90fs)
NM_004260.4(RECQL4):c.2707del (p.Ala903fs)
NM_004260.4(RECQL4):c.2714_2727del (p.Pro905fs)
NM_004260.4(RECQL4):c.2719C>T (p.Gln907Ter) rs749389984
NM_004260.4(RECQL4):c.271C>T (p.Gln91Ter)
NM_004260.4(RECQL4):c.2749G>T (p.Glu917Ter)
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter) rs762028333
NM_004260.4(RECQL4):c.2767_2768del (p.Leu923fs) rs757032044
NM_004260.4(RECQL4):c.2802G>A (p.Trp934Ter) rs1827483654
NM_004260.4(RECQL4):c.2826_2827dup (p.Thr943fs)
NM_004260.4(RECQL4):c.2849del (p.Pro950fs)
NM_004260.4(RECQL4):c.2853_2869dup (p.Gln957fs)
NM_004260.4(RECQL4):c.2861_2877del (p.Ala954fs) rs1208137808
NM_004260.4(RECQL4):c.2863C>T (p.Gln955Ter)
NM_004260.4(RECQL4):c.287_300dup (p.Ser101fs)
NM_004260.4(RECQL4):c.2886-1G>A
NM_004260.4(RECQL4):c.2886-2A>G rs1402322681
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.2924del (p.Pro975fs)
NM_004260.4(RECQL4):c.2952_2958del (p.Val985fs) rs1259761865
NM_004260.4(RECQL4):c.2993G>A (p.Trp998Ter)
NM_004260.4(RECQL4):c.2998del (p.Leu1000fs) rs1827432061
NM_004260.4(RECQL4):c.3008_3009del (p.Val1003fs) rs1586795055
NM_004260.4(RECQL4):c.3013_3014delinsTA (p.Arg1005Ter)
NM_004260.4(RECQL4):c.3022dup (p.Cys1008fs)
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.4(RECQL4):c.3025del (p.Gln1009fs)
NM_004260.4(RECQL4):c.3035G>A (p.Trp1012Ter) rs2130662004
NM_004260.4(RECQL4):c.3040del (p.His1014fs)
NM_004260.4(RECQL4):c.3115del (p.Ser1039fs)
NM_004260.4(RECQL4):c.3125del (p.Asp1042fs)
NM_004260.4(RECQL4):c.3132del (p.Ala1045fs)
NM_004260.4(RECQL4):c.3141_3142del (p.Lys1048fs) rs773765879
NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter) rs1554896691
NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter) rs766643335
NM_004260.4(RECQL4):c.3161_3209del (p.Phe1054fs)
NM_004260.4(RECQL4):c.3163del (p.Leu1055fs) rs1827372162
NM_004260.4(RECQL4):c.3178_3185del (p.Gln1060fs)
NM_004260.4(RECQL4):c.3184dup (p.Arg1062fs) rs2130658485
NM_004260.4(RECQL4):c.318del (p.Gln107fs) rs775439596
NM_004260.4(RECQL4):c.3193C>T (p.Gln1065Ter) rs1586792875
NM_004260.4(RECQL4):c.3214_3215insC (p.Arg1072fs) rs1827352302
NM_004260.4(RECQL4):c.3223C>T (p.Gln1075Ter) rs1319295020
NM_004260.4(RECQL4):c.3262del (p.Cys1088fs) rs2130656050
NM_004260.4(RECQL4):c.3265del (p.Leu1089fs) rs2130655986
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3277del (p.Asp1093fs) rs1356876749
NM_004260.4(RECQL4):c.3278_3279dup (p.Glu1094fs)
NM_004260.4(RECQL4):c.3278_3279insAAGGA (p.Asp1093fs)
NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter) rs1586791537
NM_004260.4(RECQL4):c.3284_3287dup (p.Ser1097fs) rs1827314465
NM_004260.4(RECQL4):c.3289_3310dup (p.Leu1104fs)
NM_004260.4(RECQL4):c.3289dup (p.Ser1097fs)
NM_004260.4(RECQL4):c.3312_3319del (p.Gly1105fs) rs1827306118
NM_004260.4(RECQL4):c.3321C>G (p.Tyr1107Ter) rs376392965
NM_004260.4(RECQL4):c.3324_3325insAA (p.Glu1109fs) rs2130654895
NM_004260.4(RECQL4):c.3330dup (p.Glu1111fs) rs2130654806
NM_004260.4(RECQL4):c.3331G>T (p.Glu1111Ter) rs1331348912
NM_004260.4(RECQL4):c.3334G>T (p.Glu1112Ter) rs753620447
NM_004260.4(RECQL4):c.3334del (p.Glu1112fs)
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004260.4(RECQL4):c.3367C>T (p.Gln1123Ter)
NM_004260.4(RECQL4):c.3397C>T (p.Gln1133Ter)
NM_004260.4(RECQL4):c.3404G>A (p.Trp1135Ter)
NM_004260.4(RECQL4):c.3405G>A (p.Trp1135Ter)
NM_004260.4(RECQL4):c.3416del (p.Val1139fs)
NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter) rs1827248750
NM_004260.4(RECQL4):c.376del (p.Arg126fs)
NM_004260.4(RECQL4):c.384G>A (p.Trp128Ter)
NM_004260.4(RECQL4):c.400_416del (p.Ser134fs) rs2130729321
NM_004260.4(RECQL4):c.419del (p.Pro140fs) rs1406864413
NM_004260.4(RECQL4):c.461_462del (p.Lys154fs)
NM_004260.4(RECQL4):c.462_463insC (p.Val155fs) rs2130728440
NM_004260.4(RECQL4):c.481C>T (p.Gln161Ter)
NM_004260.4(RECQL4):c.526C>T (p.Gln176Ter) rs2130727195
NM_004260.4(RECQL4):c.539delinsCTCCCTAGCCCAGC (p.Ser180delinsThrProTer) rs1815053872
NM_004260.4(RECQL4):c.541C>T (p.Gln181Ter)
NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter) rs1564808132
NM_004260.4(RECQL4):c.577C>T (p.Arg193Ter) rs754986197
NM_004260.4(RECQL4):c.615del (p.Ala207fs) rs1815033569
NM_004260.4(RECQL4):c.615dup (p.Lys206fs) rs1815033569
NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter) rs1317950691
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004260.4(RECQL4):c.652_653del (p.Gln218fs) rs745627867
NM_004260.4(RECQL4):c.660_661del (p.Ile221fs)
NM_004260.4(RECQL4):c.670G>T (p.Glu224Ter) rs775600052
NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs) rs1564807584
NM_004260.4(RECQL4):c.686del (p.Gly229fs) rs1586824650
NM_004260.4(RECQL4):c.690_709del (p.Gly231fs) rs1586824430
NM_004260.4(RECQL4):c.694_707del (p.Ala232fs) rs2130723893
NM_004260.4(RECQL4):c.703C>T (p.Gln235Ter)
NM_004260.4(RECQL4):c.715del (p.Ala239fs)
NM_004260.4(RECQL4):c.792del (p.Arg263_Trp264insTer)
NM_004260.4(RECQL4):c.805del (p.Trp269fs) rs1060501370
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
NM_004260.4(RECQL4):c.843_847dup (p.Gly283fs) rs2130721433
NM_004260.4(RECQL4):c.854del (p.Pro285fs) rs1292831710
NM_004260.4(RECQL4):c.854dup (p.Ser286fs)
NM_004260.4(RECQL4):c.865del (p.Ala289fs)
NM_004260.4(RECQL4):c.871del (p.Ala291fs) rs1389647533
NM_004260.4(RECQL4):c.897del (p.Glu301fs) rs2130720341
NM_004260.4(RECQL4):c.910_917dup (p.Gln306fs)
NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter) rs1554902528
NM_004260.4(RECQL4):c.931_950del (p.Cys311fs)
NM_004260.4(RECQL4):c.988_1004del (p.Ala330fs) rs2130718160
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434

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