ClinVar Miner

List of variants in gene LAT, LOC130058751 studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (13):

Combined immunodeficiency, X-linked
Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency
Immunodeficiency 104
Immunodeficiency 104; Hepatitis C virus, susceptibility to
Immunodeficiency 18
Immunodeficiency 18, severe combined immunodeficiency variant
Immunodeficiency 19
Immunodeficiency 25
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to LAT deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
X-linked severe combined immunodeficiency

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001014989.2(LAT):c.52dup (p.Ala18fs)	rs749637413

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