ClinVar Miner

List of variants in gene IL12RB1 reported as benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Included ClinVar conditions (3):

Immunodeficiency 27A
Immunodeficiency 27A; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Immunodeficiency 27A; Hepatitis B virus, susceptibility to; Helicobacter pylori infection, susceptibility to; Mycobacterium tuberculosis, susceptibility to; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)	rs11575934	0.25155
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)	rs11575926	0.12190
NM_005535.3(IL12RB1):c.783+10C>T	rs79972275	0.00537

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