ClinVar Miner

List of variants reported as likely benign for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)	rs17885102	0.00316
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	rs121913208	0.00206
NM_005534.4(IFNGR2):c.595T>C (p.Leu199=)	rs149173957	0.00044

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