ClinVar Miner

Variants in gene LRBA with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
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.5030A>G (p.Asn1677Ser) rs17027133 0.00349
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.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly) rs553138286 0.00026
NM_001364905.1(LRBA):c.6046+7G>T rs376126419 0.00010
NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly) rs891747847 0.00001
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala) rs555169864
NM_001364905.1(LRBA):c.8468+10del rs1454498033

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