ClinVar Miner

List of variants in gene LRBA reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 95
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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.3859A>G (p.Ile1287Val) rs118037378 0.00242
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481 0.00076
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.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.7859T>G (p.Ile2620Ser) rs777084152 0.00004
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256 0.00003
NM_001364905.1(LRBA):c.7571C>G (p.Ala2524Gly) rs145552628 0.00003
NM_001364905.1(LRBA):c.5434C>T (p.Arg1812Cys) rs368625168 0.00002
NM_001364905.1(LRBA):c.1180G>C (p.Ala394Pro) rs753848083 0.00001
NM_001364905.1(LRBA):c.2166-10A>G rs200281652 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.6443A>G (p.Asn2148Ser) rs143949228 0.00001
NM_001364905.1(LRBA):c.6553C>T (p.Arg2185Cys) rs764408115 0.00001
NM_001364905.1(LRBA):c.6664G>A (p.Ala2222Thr) rs754600521 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
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.217-21dup rs766044503
NM_001364905.1(LRBA):c.217-307A>C rs2407548
NM_001364905.1(LRBA):c.3583A>G (p.Thr1195Ala)
NM_001364905.1(LRBA):c.3829T>C (p.Ser1277Pro) rs765914410
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.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.5424_5434del (p.Ala1808_Pro1809insTer) rs1553965868
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.5786G>A (p.Arg1929Gln) rs747575946
NM_001364905.1(LRBA):c.6193+150A>C rs4401437
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) rs142598024
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.7693+25C>T rs78877620
NM_001364905.1(LRBA):c.7850-306G>A rs11728745
NM_001364905.1(LRBA):c.8469-52_8469-48dup rs150278643

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