ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency by 3billion

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.3207+73G>A	rs536358097	0.00010
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)	rs193922364	0.00001
NM_002185.5(IL7R):c.83-2A>T	rs886060531	0.00001

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