List of variants in gene PTPRC reported as pathogenic for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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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
NM_002838.5(PTPRC):c.1625_1626dup (p.Asp543fs)	rs2102445016
NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)
NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)
NM_002838.5(PTPRC):c.2237_2238del (p.Thr746fs)
NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)	rs1571880832
NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)	rs1571880941
NM_002838.5(PTPRC):c.260del (p.Pro87fs)
NM_002838.5(PTPRC):c.2620del (p.Glu874fs)
NM_002838.5(PTPRC):c.2668C>T (p.Arg890Ter)
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter)	rs779246448
NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)	rs2102393172
NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)
NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)
NM_002838.5(PTPRC):c.590del (p.Tyr197fs)

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