ClinVar Miner

List of variants studied for Immunodeficiency 105 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala)	rs4915154	0.01733
NM_002838.5(PTPRC):c.3402C>T (p.Pro1134=)	rs61757805	0.00238
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val)	rs41314039	0.00063
NM_002838.5(PTPRC):c.177C>G (p.Pro59=)	rs17612648

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