ClinVar Miner

List of variants in gene combination CCR5, CCR5AS reported as protective for susceptibility to HIV infection

Included ClinVar conditions (8):

Coronary heart disease, susceptibility to, 1; Susceptibility to HIV infection; Age related macular degeneration 12
HIV-1 viremia, susceptibility to
IgE responsiveness, atopic; Susceptibility to HIV infection
Susceptibility to HIV infection
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections
Susceptibility to HIV infection; Mycobacterium tuberculosis, susceptibility to; Dengue virus, susceptibility to
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to
Type 1 diabetes mellitus 22; Hepatitis C virus, susceptibility to; Susceptibility to HIV infection; West Nile virus, susceptibility to

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000579.4(CCR5):c.-301+246A>G	rs1799987	0.48765
NM_001394783.1(CCR5):c.180G>T (p.Arg60Ser)	rs1800940	0.00113
NM_001394783.1(CCR5):c.303T>A (p.Cys101Ter)	rs1800560	0.00087
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	rs333

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