ClinVar Miner

List of variants in gene IL6ST studied for Immunodeficiency 94 with autoinflammation and dysmorphic facies

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002184.4(IL6ST):c.769T>C (p.Tyr257His)	rs763532110	0.00001
NM_002184.4(IL6ST):c.560_571del (p.Ser187_Tyr190del)	rs2111774223
NM_002184.4(IL6ST):c.76G>A (p.Asp26Asn)	rs2533574302

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