List of variants reported as benign for combined immunodeficiency due to LRBA deficiency

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 100

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HGVS	dbSNP	gnomAD frequency
NM_001364905.1(LRBA):c.4569+9C>T	rs186080	0.83135
NM_001364905.1(LRBA):c.7849+10A>G	rs1813134	0.62993
NM_001364905.1(LRBA):c.8317-341T>C	rs2290847	0.49343
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.5550T>C (p.Val1850=)	rs1129998	0.17226
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)	rs1782360	0.12249
NM_001364905.1(LRBA):c.1347A>G (p.Ala449=)	rs1201208	0.10667
NM_001364905.1(LRBA):c.1015-9C>T	rs765923836	0.06006
NM_001364905.1(LRBA):c.6781-3C>T	rs58873298	0.02593
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=)	rs17027154	0.02479
NM_001364905.1(LRBA):c.7630+10G>C	rs57901153	0.02351
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)	rs35879351	0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=)	rs11735845	0.02120
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val)	rs72719663	0.01896
NM_001364905.1(LRBA):c.1603-4G>T	rs143754610	0.01729
NM_001364905.1(LRBA):c.8106G>C (p.Leu2702Phe)	rs34662958	0.01130
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp)	rs34708681	0.00859
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile)	rs34678304	0.00820
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=)	rs61741557	0.00815
NM_001364905.1(LRBA):c.5171+20G>A	rs116225517	0.00791
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val)	rs35612775	0.00642
NM_001364905.1(LRBA):c.8088G>A (p.Ala2696=)	rs78563281	0.00553
NM_001364905.1(LRBA):c.3825+15T>G	rs74366731	0.00494
NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=)	rs75761402	0.00493
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.3350G>T (p.Gly1117Val)	rs35977354	0.00462
NM_001364905.1(LRBA):c.3826-5A>G	rs114629781	0.00462
NM_001364905.1(LRBA):c.1689C>A (p.Pro563=)	rs115894255	0.00443
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)	rs139428189	0.00376
NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu)	rs35250375	0.00360
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.3568A>G (p.Met1190Val)	rs138173151	0.00282
NM_001364905.1(LRBA):c.6448+17A>G	rs183652080	0.00274
NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val)	rs118037378	0.00242
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.194T>C (p.Ile65Thr)	rs148385798	0.00205
NM_001364905.1(LRBA):c.5031T>C (p.Asn1677=)	rs114738831	0.00197
NM_001364905.1(LRBA):c.217-9C>T	rs1163872504	0.00190
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.8460C>T (p.Tyr2820=)	rs76608264	0.00170
NM_001364905.1(LRBA):c.2472C>T (p.Thr824=)	rs149235577	0.00163
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)	rs145709687	0.00152
NM_001364905.1(LRBA):c.6046+1886T>C	rs72959815	0.00138
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.4323G>T (p.Arg1441=)	rs145003932	0.00124
NM_001364905.1(LRBA):c.5754+15T>C	rs112952572	0.00118
NM_001364905.1(LRBA):c.52G>A (p.Gly18Arg)	rs150755521	0.00110
NM_001364905.1(LRBA):c.2258+11C>T	rs200986195	0.00102
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.204T>C (p.Thr68=)	rs143383047	0.00085
NM_001364905.1(LRBA):c.2469G>A (p.Ala823=)	rs144453185	0.00064
NM_001364905.1(LRBA):c.3684T>C (p.Cys1228=)	rs201219993	0.00032
NM_001364905.1(LRBA):c.5581-12T>C	rs192470940	0.00031
NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn)	rs200809013	0.00031
NM_001364905.1(LRBA):c.7016G>T (p.Ser2339Ile)	rs183574413	0.00030
NM_001364905.1(LRBA):c.4911C>T (p.Ile1637=)	rs565094363	0.00024
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu)	rs191118242	0.00022
NM_001364905.1(LRBA):c.315G>A (p.Thr105=)	rs755713891	0.00020
NM_001364905.1(LRBA):c.2067+11A>G	rs185860143	0.00019
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=)	rs141442145	0.00015
NM_001364905.1(LRBA):c.3273A>G (p.Ser1091=)	rs572733441	0.00012
NM_001364905.1(LRBA):c.4350C>T (p.Val1450=)	rs750711532	0.00008
NM_001364905.1(LRBA):c.7041+14T>G	rs201154634	0.00005
NM_001364905.1(LRBA):c.5755-18T>C	rs186513264	0.00004
NM_001364905.1(LRBA):c.1015-10del	rs753223643
NM_001364905.1(LRBA):c.1015-20dup	rs753223643
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.2068-19dup
NM_001364905.1(LRBA):c.217-10del	rs766044503
NM_001364905.1(LRBA):c.217-21_217-20dup	rs766044503
NM_001364905.1(LRBA):c.217-21dup	rs766044503
NM_001364905.1(LRBA):c.2368-11del	rs763305183
NM_001364905.1(LRBA):c.3150A>G (p.Val1050=)	rs756885717
NM_001364905.1(LRBA):c.4339+15del
NM_001364905.1(LRBA):c.4462-13del	rs750589475
NM_001364905.1(LRBA):c.448+12dup	rs779183221
NM_001364905.1(LRBA):c.4570-13dup	rs145452262
NM_001364905.1(LRBA):c.4570-6del	rs145452262
NM_001364905.1(LRBA):c.5518+13del
NM_001364905.1(LRBA):c.5519-20dup
NM_001364905.1(LRBA):c.5581-14dup	rs760075270
NM_001364905.1(LRBA):c.5581-5del	rs760075270
NM_001364905.1(LRBA):c.5755-10del
NM_001364905.1(LRBA):c.5755-10dup	rs772027194
NM_001364905.1(LRBA):c.6852A>G (p.Gln2284=)	rs140538555
NM_001364905.1(LRBA):c.7041+15del	rs751929197
NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr)
NM_001364905.1(LRBA):c.8017+20del
NM_001364905.1(LRBA):c.8017+5475_8017+5480del	rs56229710
NM_001364905.1(LRBA):c.8018-13dup	rs773155703
NM_001364905.1(LRBA):c.895-11dup	rs762371000

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