List of variants in gene IL12RB1 reported as pathogenic by 3billion

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp)	rs144702323	0.00003
NM_005535.3(IL12RB1):c.1238_1239del (p.Cys413fs)	rs2146200643
NM_005535.3(IL12RB1):c.1561C>T (p.Arg521Ter)	rs991981668
NM_005535.3(IL12RB1):c.64+2T>G	rs765825621

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