List of variants in gene combination LOC126863253, UBA1 reported as benign for Infantile-onset X-linked spinal muscular atrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003334.4(UBA1):c.117+9C>T	rs371344095	0.00081
NM_003334.4(UBA1):c.39C>T (p.Ser13=)	rs141450062	0.00048
NM_003334.4(UBA1):c.176+13A>G	rs186890744	0.00034
NM_003334.4(UBA1):c.132C>T (p.Asn44=)	rs368727585	0.00028
NM_003334.4(UBA1):c.253G>A (p.Val85Met)	rs782796398	0.00007
NM_003334.4(UBA1):c.177-13C>T	rs202129132	0.00005
NM_003334.4(UBA1):c.177-11del	rs781797300	0.00004
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)	rs200206019	0.00003
NM_003334.4(UBA1):c.210C>T (p.Leu70=)	rs191969626	0.00002
NM_003334.4(UBA1):c.117+16G>A	rs375750779	0.00001
NM_003334.4(UBA1):c.15G>A (p.Pro5=)	rs782514089	0.00001
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)	rs782425809	0.00001
NM_003334.4(UBA1):c.261C>T (p.Ile87=)	rs782807448	0.00001

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