List of variants reported as uncertain significance for Infantile-onset X-linked spinal muscular atrophy by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)	rs201253044	0.00003
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)	rs782354395	0.00002
NM_003334.4(UBA1):c.117C>T (p.Asn39=)	rs2521385601
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)	rs1556790765

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