ClinVar Miner

List of variants reported as likely pathogenic for Immunodeficiency 27A

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg)	rs1582637044
NM_000416.3(IFNGR1):c.547-42A>T	rs1236009877
NM_000416.3(IFNGR1):c.85+1G>T	rs2548247291

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