ClinVar Miner

List of variants in gene LRBA reported by Genetic Services Laboratory, University of Chicago

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.1513A>G (p.Ile505Val) rs35612775 0.00642
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.7564A>C (p.Thr2522Pro) rs62346982 0.00449
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.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00196
NM_001364905.1(LRBA):c.*9G>T rs150102345 0.00194
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.2472C>T (p.Thr824=) rs149235577 0.00163
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00097
NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=) rs145690847 0.00038
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=) rs149919062 0.00036
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu) rs113022115 0.00034
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly) rs553138286 0.00026
NM_001364905.1(LRBA):c.2811G>A (p.Arg937=) rs367738505 0.00013
NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val) rs147096866 0.00012
NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys) rs139428686 0.00004
NM_001364905.1(LRBA):c.7177G>A (p.Val2393Ile) rs202243949 0.00002
NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala) rs773862243 0.00001
NM_001364905.1(LRBA):c.5227A>G (p.Ser1743Gly) rs768830356 0.00001
NM_001364905.1(LRBA):c.7690A>G (p.Ile2564Val) rs200047974 0.00001
NM_001364905.1(LRBA):c.84T>C (p.Thr28=) rs747704683 0.00001
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.217-10del rs766044503
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001364905.1(LRBA):c.459del (p.Asp154fs) rs2149508421
NM_001364905.1(LRBA):c.8163G>T (p.Arg2721Ser) rs1307266786

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