ClinVar Miner

List of variants in gene LRBA studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP
NC_000004.11:g.(?_151231361)_(151271331_?)del
NC_000004.11:g.(?_151509180)_(151656538_?)del
NC_000004.11:g.(?_151604683)_(151656538_?)del
NC_000004.11:g.(?_151656390)_(151850237_?)del
NC_000004.11:g.(?_151842330)_(151842465_?)del
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1109C>G (p.Ala370Gly) rs1391144269
NM_001364905.1(LRBA):c.1144T>A (p.Leu382Met) rs62344598
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.116T>C (p.Leu39Pro)
NM_001364905.1(LRBA):c.1189G>A (p.Asp397Asn)
NM_001364905.1(LRBA):c.1259C>T (p.Thr420Met)
NM_001364905.1(LRBA):c.1270C>T (p.Arg424Trp) rs945099173
NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg)
NM_001364905.1(LRBA):c.130A>G (p.Ile44Val)
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256
NM_001364905.1(LRBA):c.1372G>A (p.Val458Ile) rs765483951
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.1485G>C (p.Leu495Phe)
NM_001364905.1(LRBA):c.149T>C (p.Val50Ala)
NM_001364905.1(LRBA):c.1541C>T (p.Ala514Val) rs187493744
NM_001364905.1(LRBA):c.1603-4G>T rs143754610
NM_001364905.1(LRBA):c.1659A>G (p.Lys553=) rs747052936
NM_001364905.1(LRBA):c.169G>A (p.Val57Ile)
NM_001364905.1(LRBA):c.1732A>G (p.Ile578Val)
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)
NM_001364905.1(LRBA):c.1823T>C (p.Ile608Thr)
NM_001364905.1(LRBA):c.1832T>A (p.Val611Asp)
NM_001364905.1(LRBA):c.188G>C (p.Arg63Thr) rs756946124
NM_001364905.1(LRBA):c.191A>G (p.Asp64Gly)
NM_001364905.1(LRBA):c.1924+4_1924+7del rs1355259232
NM_001364905.1(LRBA):c.192T>G (p.Asp64Glu) rs1222697259
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.2036C>G (p.Ala679Gly)
NM_001364905.1(LRBA):c.2064T>C (p.His688=) rs145198687
NM_001364905.1(LRBA):c.2126A>G (p.Asn709Ser) rs1011931648
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn)
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445
NM_001364905.1(LRBA):c.224G>C (p.Gly75Ala)
NM_001364905.1(LRBA):c.2259-3C>T
NM_001364905.1(LRBA):c.2279T>C (p.Leu760Pro)
NM_001364905.1(LRBA):c.2345C>T (p.Thr782Ile) rs776922216
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln)
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.2564A>G (p.Glu855Gly) rs1218661905
NM_001364905.1(LRBA):c.2711A>G (p.Tyr904Cys)
NM_001364905.1(LRBA):c.281G>T (p.Cys94Phe) rs771839194
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)
NM_001364905.1(LRBA):c.2905G>T (p.Val969Leu)
NM_001364905.1(LRBA):c.2927C>T (p.Thr976Met)
NM_001364905.1(LRBA):c.3064G>A (p.Glu1022Lys)
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
NM_001364905.1(LRBA):c.319C>A (p.Gln107Lys)
NM_001364905.1(LRBA):c.322G>A (p.Ala108Thr)
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln) rs142075710
NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly)
NM_001364905.1(LRBA):c.3266A>T (p.Asp1089Val)
NM_001364905.1(LRBA):c.3280C>T (p.Pro1094Ser) rs1553982186
NM_001364905.1(LRBA):c.3370A>G (p.Asn1124Asp) rs149606117
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu) rs113022115
NM_001364905.1(LRBA):c.3413C>T (p.Ala1138Val) rs1004655907
NM_001364905.1(LRBA):c.3437A>T (p.Asp1146Val)
NM_001364905.1(LRBA):c.3463A>G (p.Ile1155Val)
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala) rs146297781
NM_001364905.1(LRBA):c.349A>G (p.Ile117Val) rs138267366
NM_001364905.1(LRBA):c.3521C>G (p.Ser1174Cys)
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly) rs749012995
NM_001364905.1(LRBA):c.3721A>T (p.Ile1241Phe) rs149689496
NM_001364905.1(LRBA):c.3743A>G (p.Asn1248Ser) rs140860135
NM_001364905.1(LRBA):c.3748G>C (p.Ala1250Pro) rs146423687
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.3895T>C (p.Ser1299Pro) rs1553981489
NM_001364905.1(LRBA):c.3905C>T (p.Thr1302Ile) rs756627280
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His) rs144754728
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro) rs144754728
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001364905.1(LRBA):c.3950G>A (p.Arg1317His) rs1047132889
NM_001364905.1(LRBA):c.3995T>C (p.Met1332Thr) rs570345199
NM_001364905.1(LRBA):c.4090G>A (p.Val1364Met)
NM_001364905.1(LRBA):c.4200A>G (p.Ile1400Met) rs1560909790
NM_001364905.1(LRBA):c.4263T>G (p.Ser1421Arg)
NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=) rs145003932
NM_001364905.1(LRBA):c.4371G>T (p.Glu1457Asp)
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845
NM_001364905.1(LRBA):c.4570-6T>A
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_001364905.1(LRBA):c.4817G>T (p.Gly1606Val) rs749320751
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu) rs1560877215
NM_001364905.1(LRBA):c.4901C>T (p.Pro1634Leu)
NM_001364905.1(LRBA):c.4946A>G (p.Asn1649Ser) rs373049835
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys)
NM_001364905.1(LRBA):c.499C>A (p.Arg167Ser) rs371936024
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440
NM_001364905.1(LRBA):c.501C>T (p.Arg167=)
NM_001364905.1(LRBA):c.5024A>C (p.Asn1675Thr)
NM_001364905.1(LRBA):c.5026G>A (p.Val1676Ile) rs199597592
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.5048G>A (p.Arg1683Gln)
NM_001364905.1(LRBA):c.5062A>G (p.Ile1688Val) rs746205437
NM_001364905.1(LRBA):c.5066C>T (p.Pro1689Leu)
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054
NM_001364905.1(LRBA):c.5149G>A (p.Val1717Met) rs143003767
NM_001364905.1(LRBA):c.5180T>C (p.Ile1727Thr)
NM_001364905.1(LRBA):c.5219T>G (p.Phe1740Cys)
NM_001364905.1(LRBA):c.5240A>G (p.Asn1747Ser)
NM_001364905.1(LRBA):c.530A>C (p.Gln177Pro)
NM_001364905.1(LRBA):c.5384+6T>G
NM_001364905.1(LRBA):c.53G>T (p.Gly18Val) rs749860824
NM_001364905.1(LRBA):c.5435G>C (p.Arg1812Pro)
NM_001364905.1(LRBA):c.545G>A (p.Arg182Gln) rs769037604
NM_001364905.1(LRBA):c.5460T>G (p.Pro1820=) rs565770808
NM_001364905.1(LRBA):c.549+6A>C rs199594598
NM_001364905.1(LRBA):c.5525T>C (p.Val1842Ala) rs954969000
NM_001364905.1(LRBA):c.5537C>T (p.Ser1846Leu) rs751188122
NM_001364905.1(LRBA):c.5645+2T>A
NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val)
NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys) rs150829802
NM_001364905.1(LRBA):c.5857C>G (p.Leu1953Val)
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His) rs780262611
NM_001364905.1(LRBA):c.5962G>A (p.Asp1988Asn)
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351
NM_001364905.1(LRBA):c.6010C>T (p.His2004Tyr)
NM_001364905.1(LRBA):c.6046+1904A>G rs908422044
NM_001364905.1(LRBA):c.6046+1919G>A
NM_001364905.1(LRBA):c.6049A>C (p.Thr2017Pro) rs371434395
NM_001364905.1(LRBA):c.6074G>A (p.Gly2025Glu) rs778545671
NM_001364905.1(LRBA):c.6179T>C (p.Leu2060Ser) rs772616092
NM_001364905.1(LRBA):c.6192C>T (p.Ala2064=)
NM_001364905.1(LRBA):c.6214C>T (p.Pro2072Ser) rs140681994
NM_001364905.1(LRBA):c.6378G>T (p.Glu2126Asp) rs377051616
NM_001364905.1(LRBA):c.6388A>G (p.Ile2130Val)
NM_001364905.1(LRBA):c.6403T>C (p.Tyr2135His)
NM_001364905.1(LRBA):c.6415A>G (p.Asn2139Asp)
NM_001364905.1(LRBA):c.6438G>C (p.Met2146Ile) rs199542511
NM_001364905.1(LRBA):c.6443A>G (p.Asn2148Ser) rs143949228
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6574C>T (p.Arg2192Cys)
NM_001364905.1(LRBA):c.6575G>A (p.Arg2192His) rs372513836
NM_001364905.1(LRBA):c.6608G>A (p.Arg2203Gln)
NM_001364905.1(LRBA):c.6620_6621GA[2] (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)
NM_001364905.1(LRBA):c.6712G>T (p.Val2238Phe) rs1554034100
NM_001364905.1(LRBA):c.6718A>G (p.Thr2240Ala)
NM_001364905.1(LRBA):c.6736G>A (p.Glu2246Lys)
NM_001364905.1(LRBA):c.6852A>C (p.Gln2284His) rs140538555
NM_001364905.1(LRBA):c.6921A>G (p.Ile2307Met)
NM_001364905.1(LRBA):c.6968A>G (p.Asp2323Gly)
NM_001364905.1(LRBA):c.6973G>T (p.Ala2325Ser)
NM_001364905.1(LRBA):c.6978T>C (p.Asp2326=) rs1172980980
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys)
NM_001364905.1(LRBA):c.7077G>A (p.Met2359Ile) rs146268782
NM_001364905.1(LRBA):c.7115A>G (p.Asp2372Gly)
NM_001364905.1(LRBA):c.7187A>G (p.Asn2396Ser) rs149731019
NM_001364905.1(LRBA):c.7256A>C (p.Tyr2419Ser) rs376374926
NM_001364905.1(LRBA):c.7258A>G (p.Lys2420Glu)
NM_001364905.1(LRBA):c.7292A>G (p.Asn2431Ser)
NM_001364905.1(LRBA):c.7358G>A (p.Arg2453Lys)
NM_001364905.1(LRBA):c.7364C>G (p.Ala2455Gly) rs542791563
NM_001364905.1(LRBA):c.737A>G (p.Asn246Ser) rs753938783
NM_001364905.1(LRBA):c.7403C>T (p.Ser2468Phe)
NM_001364905.1(LRBA):c.7464G>A (p.Met2488Ile) rs757105953
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982
NM_001364905.1(LRBA):c.7569C>T (p.Pro2523=) rs1372828165
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg) rs769697590
NM_001364905.1(LRBA):c.7642G>T (p.Ala2548Ser) rs780327383
NM_001364905.1(LRBA):c.7687C>T (p.Leu2563Phe) rs202014892
NM_001364905.1(LRBA):c.7801G>A (p.Val2601Ile) rs565132015
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
NM_001364905.1(LRBA):c.7840A>G (p.Thr2614Ala) rs148991943
NM_001364905.1(LRBA):c.7859T>G (p.Ile2620Ser)
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala) rs541116943
NM_001364905.1(LRBA):c.7878T>C (p.His2626=) rs946590569
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
NM_001364905.1(LRBA):c.7934A>T (p.Tyr2645Phe)
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838
NM_001364905.1(LRBA):c.802C>T (p.His268Tyr)
NM_001364905.1(LRBA):c.8036G>A (p.Arg2679Gln)
NM_001364905.1(LRBA):c.8071T>G (p.Cys2691Gly) rs1560963757
NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val)
NM_001364905.1(LRBA):c.8101_8103del (p.Val2701del) rs1560963643
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)
NM_001364905.1(LRBA):c.8248G>A (p.Gly2750Ser) rs746434010
NM_001364905.1(LRBA):c.8256C>A (p.Phe2752Leu)
NM_001364905.1(LRBA):c.8317G>A (p.Ala2773Thr) rs1015318367
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)
NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp) rs143351602
NM_001364905.1(LRBA):c.8441G>A (p.Arg2814Gln)
NM_001364905.1(LRBA):c.8458T>C (p.Tyr2820His)
NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn) rs191145485
NM_001364905.1(LRBA):c.8513A>C (p.Tyr2838Ser)
NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter) rs1323561325
NM_001364905.1(LRBA):c.894+6T>C
NM_001364905.1(LRBA):c.89G>C (p.Gly30Ala)
NM_001364905.1(LRBA):c.913G>A (p.Val305Ile) rs141193241

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