ClinVar Miner

List of variants reported as pathogenic for Immunodeficiency 105 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002838.5(PTPRC):c.1450+1G>A	rs1571865049	0.00001
NM_002838.5(PTPRC):c.1090_1095del (p.Glu364_Tyr365del)
NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter)	rs398122383

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