ClinVar Miner

List of variants studied for autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency by Mendelics

Included ClinVar conditions (4):

Immunodeficiency 27A
Immunodeficiency 27A; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Immunodeficiency 27A; Helicobacter pylori infection, susceptibility to; 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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)	rs104893973	0.00001
NM_000416.3(IFNGR1):c.547-42A>T	rs1236009877
NM_000416.3(IFNGR1):c.547-48_547-45del	rs1456987322
NM_000416.3(IFNGR1):c.86-1_93del	rs753213766

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