List of variants studied for Infantile-onset X-linked spinal muscular atrophy; VEXAS syndrome

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Total variants: 6

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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.1147A>T (p.Ile383Phe)	rs1341394275	0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	rs1556787651	0.00001
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	rs782416867
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)	rs1556792891
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	rs781996319

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