List of variants in gene LRBA reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)	rs140666848	0.00218
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.3948A>G (p.Gln1316=)	rs35154927	0.00125
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)	rs138890467	0.00038
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)	rs149919062	0.00036
NM_001364905.1(LRBA):c.1573T>G (p.Phe525Val)	rs768302925	0.00001
NM_001364905.1(LRBA):c.1015-10del	rs753223643
NM_001364905.1(LRBA):c.1015-20dup	rs753223643
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)	rs72721739
NM_001364905.1(LRBA):c.217-21dup	rs766044503
NM_001364905.1(LRBA):c.840G>C (p.Lys280Asn)	rs1344342751

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