ClinVar Miner

List of variants studied for Autoinflammation with episodic fever and lymphadenopathy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001354930.2(RIPK1):c.175G>C (p.Ala59Pro) rs2533157278
NM_001354930.2(RIPK1):c.85G>C (p.Gly29Arg)

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