ClinVar Miner

List of variants in gene LRBA studied for not provided

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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.1756-140G>A rs1148648 0.95669
NM_001364905.1(LRBA):c.1360-40A>G rs1201207 0.95627
NM_001364905.1(LRBA):c.1755+202T>G rs1201213 0.95545
NM_001364905.1(LRBA):c.6551+84A>G rs7674989 0.87341
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_001364905.1(LRBA):c.5646-71G>A rs1993109 0.69833
NM_001364905.1(LRBA):c.646-264T>G rs10031124 0.69504
NM_001364905.1(LRBA):c.1756-207G>T rs1365380 0.69138
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_001364905.1(LRBA):c.7363-244G>T rs2292207 0.61439
NM_001364905.1(LRBA):c.7195-141T>C rs13145548 0.61210
NM_001364905.1(LRBA):c.8468+182A>T rs1870515 0.56114
NM_001364905.1(LRBA):c.6552-202C>G rs7673944 0.39975
NM_001364905.1(LRBA):c.1015-159A>G rs13150306 0.26274
NM_001364905.1(LRBA):c.4730-301C>A rs11736357 0.25361
NM_001364905.1(LRBA):c.7363-186G>A rs1507191 0.24858
NM_001364905.1(LRBA):c.6921+60C>G rs2292122 0.21963
NM_001364905.1(LRBA):c.6922-40C>A rs2271043 0.21960
NM_001364905.1(LRBA):c.6921+278C>G rs62348580 0.21948
NM_001364905.1(LRBA):c.2368-284A>T rs57003564 0.21947
NM_001364905.1(LRBA):c.6668-241C>T rs72734475 0.21704
NM_001364905.1(LRBA):c.6331-159A>G rs55998463 0.21669
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.21105
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_001364905.1(LRBA):c.7630+31G>A rs11737450 0.17416
NM_001364905.1(LRBA):c.5550T>C (p.Val1850=) rs1129998 0.17226
NM_001364905.1(LRBA):c.7194+308C>T rs76325768 0.14937
NM_001364905.1(LRBA):c.6667+257A>T rs17589134 0.14646
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12249
NM_001364905.1(LRBA):c.4730-303A>C rs1618979 0.12093
NM_001364905.1(LRBA):c.1347A>G (p.Ala449=) rs1201208 0.10667
NM_001364905.1(LRBA):c.-220+150T>C rs7665453 0.09854
NM_001364905.1(LRBA):c.-219-136G>A rs7665597 0.09773
NM_001364905.1(LRBA):c.5518+203C>T rs17027116 0.09320
NM_001364905.1(LRBA):c.5645+167T>A rs13340305 0.09220
NM_001364905.1(LRBA):c.2258+173T>A rs62344571 0.08803
NM_001364905.1(LRBA):c.8468+132G>A rs56145629 0.08602
NM_001364905.1(LRBA):c.1756-238T>A rs7655512 0.07113
NM_001364905.1(LRBA):c.2367+96A>C rs41280457 0.06171
NM_001364905.1(LRBA):c.6922-274G>A rs13130993 0.05584
NM_001364905.1(LRBA):c.646-154C>T rs36089213 0.05430
NM_001364905.1(LRBA):c.7693+215G>A rs76927516 0.04908
NM_001364905.1(LRBA):c.7194+251_7194+254dup rs144548467 0.03634
NM_001364905.1(LRBA):c.7694-292T>C rs80256015 0.03217
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_001364905.1(LRBA):c.3825+15T>G rs74366731 0.00494
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=) rs116828023 0.00357
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=) rs150550923 0.00185
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00125
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=) rs72719631 0.00099
NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=) rs144748889 0.00096
NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr) rs116526975 0.00083
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481 0.00076
NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=) rs145411537 0.00068
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp) rs143351602 0.00066
NM_001364905.1(LRBA):c.3743A>G (p.Asn1248Ser) rs140860135 0.00056
NM_001364905.1(LRBA):c.2112G>A (p.Met704Ile) rs114786941 0.00041
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=) rs149919062 0.00036
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu) rs113022115 0.00033
NM_001364905.1(LRBA):c.4930C>G (p.Leu1644Val) rs149324157 0.00031
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala) rs146297781 0.00026
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln) rs142075710 0.00023
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His) rs144754728 0.00019
NM_001364905.1(LRBA):c.8061T>C (p.Tyr2687=) rs146768056 0.00016
NM_001364905.1(LRBA):c.1161+4G>T rs374666604 0.00013
NM_001364905.1(LRBA):c.1071C>T (p.Phe357=) rs749749471 0.00012
NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val) rs147096866 0.00012
NM_001364905.1(LRBA):c.2050C>T (p.Leu684=) rs149148368 0.00010
NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His) rs200802435 0.00010
NM_001364905.1(LRBA):c.6921A>G (p.Ile2307Met) rs201643144 0.00009
NM_001364905.1(LRBA):c.7194+4A>G rs374748594 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn) rs191145485 0.00009
NM_001364905.1(LRBA):c.1372G>A (p.Val458Ile) rs765483951 0.00008
NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=) rs201059532 0.00008
NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys) rs150829802 0.00008
NM_001364905.1(LRBA):c.1931C>T (p.Pro644Leu) rs371718439 0.00007
NM_001364905.1(LRBA):c.2662G>A (p.Glu888Lys) rs200640538 0.00006
NM_001364905.1(LRBA):c.4793C>T (p.Ser1598Leu) rs370438098 0.00006
NM_001364905.1(LRBA):c.6375A>G (p.Thr2125=) rs541432702 0.00005
NM_001364905.1(LRBA):c.7888G>A (p.Val2630Ile) rs564067785 0.00005
NM_001364905.1(LRBA):c.3394A>T (p.Asn1132Tyr) rs769386027 0.00004
NM_001364905.1(LRBA):c.3942G>A (p.Met1314Ile) rs761765555 0.00004
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001364905.1(LRBA):c.6273C>T (p.Ser2091=) rs146901365 0.00004
NM_001364905.1(LRBA):c.7795A>G (p.Ile2599Val) rs1288341022 0.00004
NM_001364905.1(LRBA):c.7859T>G (p.Ile2620Ser) rs777084152 0.00004
NM_001364905.1(LRBA):c.1259C>T (p.Thr420Met) rs1042175189 0.00003
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256 0.00003
NM_001364905.1(LRBA):c.2586A>G (p.Gln862=) rs763553802 0.00003
NM_001364905.1(LRBA):c.3207C>A (p.Gly1069=) rs762031957 0.00003
NM_001364905.1(LRBA):c.7571C>G (p.Ala2524Gly) rs145552628 0.00003
NM_001364905.1(LRBA):c.1008T>C (p.Thr336=) rs747214029 0.00002
NM_001364905.1(LRBA):c.3202A>G (p.Thr1068Ala) rs375113636 0.00002
NM_001364905.1(LRBA):c.3244A>G (p.Ile1082Val) rs553088346 0.00002
NM_001364905.1(LRBA):c.5434C>T (p.Arg1812Cys) rs368625168 0.00002
NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg) rs375175981 0.00002
NM_001364905.1(LRBA):c.1180G>C (p.Ala394Pro) rs753848083 0.00001
NM_001364905.1(LRBA):c.1433C>T (p.Pro478Leu) rs896257229 0.00001
NM_001364905.1(LRBA):c.1573T>G (p.Phe525Val) rs768302925 0.00001
NM_001364905.1(LRBA):c.1774A>G (p.Thr592Ala) rs373175911 0.00001
NM_001364905.1(LRBA):c.240G>A (p.Leu80=) rs765297527 0.00001
NM_001364905.1(LRBA):c.2516G>A (p.Arg839His) rs1022511990 0.00001
NM_001364905.1(LRBA):c.281G>T (p.Cys94Phe) rs771839194 0.00001
NM_001364905.1(LRBA):c.3742A>G (p.Asn1248Asp) rs1030048061 0.00001
NM_001364905.1(LRBA):c.4300A>T (p.Met1434Leu) rs1487349620 0.00001
NM_001364905.1(LRBA):c.4763C>T (p.Thr1588Met) rs150879069 0.00001
NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala) rs773862243 0.00001
NM_001364905.1(LRBA):c.4975G>A (p.Gly1659Arg) rs1746594596 0.00001
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054 0.00001
NM_001364905.1(LRBA):c.5502G>A (p.Leu1834=) rs1002015795 0.00001
NM_001364905.1(LRBA):c.6037G>A (p.Val2013Met) rs747204894 0.00001
NM_001364905.1(LRBA):c.6049A>C (p.Thr2017Pro) rs371434395 0.00001
NM_001364905.1(LRBA):c.6074G>A (p.Gly2025Glu) rs778545671 0.00001
NM_001364905.1(LRBA):c.6553C>T (p.Arg2185Cys) rs764408115 0.00001
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 0.00001
NM_001364905.1(LRBA):c.6664G>A (p.Ala2222Thr) rs754600521 0.00001
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter) rs1268711491 0.00001
NM_001364905.1(LRBA):c.7010G>A (p.Arg2337Gln) rs1198087317 0.00001
NM_001364905.1(LRBA):c.7339A>G (p.Ile2447Val) rs754778401 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
NM_001364905.1(LRBA):c.7623C>T (p.Asn2541=) rs758608400 0.00001
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala) rs541116943 0.00001
NM_001364905.1(LRBA):c.8064G>T (p.Glu2688Asp) rs984876178 0.00001
NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe) rs372949000 0.00001
NM_001364905.1(LRBA):c.8426G>A (p.Cys2809Tyr) rs1470296037 0.00001
NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter) rs1323561325 0.00001
GRCh37/hg19 4q31.3(chr4:151186874-151186964)x1
GRCh37/hg19 4q31.3(chr4:151199005-151199156)x1
GRCh37/hg19 4q31.3(chr4:151203602-151203798)x1
GRCh37/hg19 4q31.3(chr4:151207085-151207186)x1
GRCh37/hg19 4q31.3(chr4:151284899-151403757)x3
GRCh37/hg19 4q31.3(chr4:151356081-151454015)x3
GRCh37/hg19 4q31.3(chr4:151803708-151953453)x1
GRCh37/hg19 4q31.3(chr4:151880765-151901433)x1
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1015-9C>A rs765923836
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001364905.1(LRBA):c.1161+101del rs372369181
NM_001364905.1(LRBA):c.1691del (p.Leu564fs) rs2127154945
NM_001364905.1(LRBA):c.1802C>T (p.Thr601Ile) rs369623654
NM_001364905.1(LRBA):c.1924+4_1924+7del rs1355259232
NM_001364905.1(LRBA):c.214C>T (p.Leu72=) rs572995926
NM_001364905.1(LRBA):c.217-21dup rs766044503
NM_001364905.1(LRBA):c.217-307A>C rs2407548
NM_001364905.1(LRBA):c.217-5G>T rs74318720
NM_001364905.1(LRBA):c.2258+2T>G rs1579059727
NM_001364905.1(LRBA):c.2338A>G (p.Thr780Ala) rs1273184429
NM_001364905.1(LRBA):c.2439A>G (p.Ile813Met) rs2127000700
NM_001364905.1(LRBA):c.2766+2T>C rs1752898179
NM_001364905.1(LRBA):c.2820A>G (p.Gln940=)
NM_001364905.1(LRBA):c.3056T>A (p.Met1019Lys) rs2126923027
NM_001364905.1(LRBA):c.3196A>G (p.Ile1066Val)
NM_001364905.1(LRBA):c.3264G>A (p.Glu1088=)
NM_001364905.1(LRBA):c.3307G>C (p.Glu1103Gln) rs794727384
NM_001364905.1(LRBA):c.3373C>G (p.Leu1125Val) rs138238756
NM_001364905.1(LRBA):c.3373C>T (p.Leu1125=) rs138238756
NM_001364905.1(LRBA):c.3583A>G (p.Thr1195Ala)
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001364905.1(LRBA):c.3829T>C (p.Ser1277Pro) rs765914410
NM_001364905.1(LRBA):c.3856G>A (p.Gly1286Arg) rs2126915521
NM_001364905.1(LRBA):c.4080C>T (p.Leu1360=)
NM_001364905.1(LRBA):c.4112C>T (p.Ala1371Val) rs1578989457
NM_001364905.1(LRBA):c.4228C>G (p.Leu1410Val) rs1578987261
NM_001364905.1(LRBA):c.4339+253_4339+255del rs9331496
NM_001364905.1(LRBA):c.4339+255del rs9331496
NM_001364905.1(LRBA):c.4339+4A>C rs2126904793
NM_001364905.1(LRBA):c.4340-5T>C rs2126887700
NM_001364905.1(LRBA):c.459del (p.Asp154fs) rs2149508421
NM_001364905.1(LRBA):c.4723C>T (p.Leu1575Phe) rs1182264315
NM_001364905.1(LRBA):c.4730-299_4730-298del rs34994399
NM_001364905.1(LRBA):c.4730-301_4730-300insA rs770518067
NM_001364905.1(LRBA):c.4730-302_4730-301insA rs1560878315
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.4907C>G (p.Ala1636Gly) rs1315950546
NM_001364905.1(LRBA):c.5069C>T (p.Ala1690Val)
NM_001364905.1(LRBA):c.5424_5434del (p.Ala1808_Pro1809insTer) rs1553965868
NM_001364905.1(LRBA):c.5456C>T (p.Ala1819Val)
NM_001364905.1(LRBA):c.549+6A>C rs199594598
NM_001364905.1(LRBA):c.550-108C>G rs58328072
NM_001364905.1(LRBA):c.5518+249_5518+250del rs10566622
NM_001364905.1(LRBA):c.5518+250del rs10566622
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5522T>C (p.Leu1841Pro) rs752995422
NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs) rs1553956151
NM_001364905.1(LRBA):c.5786G>A (p.Arg1929Gln) rs747575946
NM_001364905.1(LRBA):c.6046+1900T>G rs886042789
NM_001364905.1(LRBA):c.6046+1911A>G rs1581776058
NM_001364905.1(LRBA):c.6079C>T (p.Gln2027Ter) rs2126458818
NM_001364905.1(LRBA):c.6193+150A>C rs4401437
NM_001364905.1(LRBA):c.6274G>A (p.Glu2092Lys) rs769501419
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) rs142598024
NM_001364905.1(LRBA):c.6424C>T (p.Leu2142=) rs1438925105
NM_001364905.1(LRBA):c.6512G>T (p.Arg2171Leu) rs572317255
NM_001364905.1(LRBA):c.6551+130_6551+131del rs77312120
NM_001364905.1(LRBA):c.6552-13C>G rs140629626
NM_001364905.1(LRBA):c.6667+5C>G rs751485504
NM_001364905.1(LRBA):c.6766A>G (p.Arg2256Gly) rs1561218846
NM_001364905.1(LRBA):c.6829del (p.Tyr2277fs) rs2151995564
NM_001364905.1(LRBA):c.7019A>G (p.Gln2340Arg) rs2151993396
NM_001364905.1(LRBA):c.7195-12_7195-9dup rs1561051659
NM_001364905.1(LRBA):c.7283G>C (p.Arg2428Pro) rs139563734
NM_001364905.1(LRBA):c.7316A>G (p.Glu2439Gly) rs752621759
NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)
NM_001364905.1(LRBA):c.7619A>G (p.His2540Arg) rs2126925023
NM_001364905.1(LRBA):c.7693+25C>T rs78877620
NM_001364905.1(LRBA):c.7849+2T>C rs1553996145
NM_001364905.1(LRBA):c.7850-306G>A rs11728745
NM_001364905.1(LRBA):c.8018-13dup rs773155703
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.834A>G (p.Ser278=) rs1329260934
NM_001364905.1(LRBA):c.8350C>T (p.Leu2784Phe) rs867668931
NM_001364905.1(LRBA):c.839del (p.Lys280fs) rs1553998602
NM_001364905.1(LRBA):c.840G>C (p.Lys280Asn) rs1344342751
NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val) rs142943481
NM_001364905.1(LRBA):c.8469-52_8469-48dup rs150278643

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