ClinVar Miner

List of variants in gene UBA1 studied for VEXAS syndrome

Included ClinVar conditions (3):

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)	rs150574055	0.00347
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	rs1556787651	0.00001
NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	rs781996319

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