List of variants in gene PTPRC studied for Immunodeficiency 105

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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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.1568A>T (p.Glu523Val)	rs116464756	0.00241
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.3073-6A>G	rs191867796	0.00049
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)	rs114970039	0.00025
NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe)	rs146402228	0.00024
NM_002838.5(PTPRC):c.347A>C (p.Gln116Pro)	rs202180702	0.00016
NM_002838.5(PTPRC):c.700A>G (p.Asn234Asp)	rs535416574	0.00004
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
NM_002838.5(PTPRC):c.177C>G (p.Pro59=)	rs17612648
NM_002838.5(PTPRC):c.2142+7A>G	rs764731559
NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)	rs2102393172
NM_002838.5(PTPRC):c.3897T>G (p.Ser1299Arg)

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