ClinVar Miner

List of variants in gene LRBA reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 31
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HGVS dbSNP gnomAD frequency
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.3689G>A (p.Gly1230Asp) rs34708681 0.00859
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.7564A>C (p.Thr2522Pro) rs62346982 0.00470
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.2526T>C (p.Phe842=) rs139428189 0.00376
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
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.1713C>T (p.His571=) rs145812385 0.00101
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
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.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256 0.00003
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) rs1192554889 0.00001
NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter) rs779575307 0.00001
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala) rs541116943 0.00001
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.6424C>T (p.Leu2142=) rs1438925105

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