List of variants in gene RXYLT1 reported as pathogenic for congenital nervous system disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)	rs150736997	0.00002
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter)	rs397514695	0.00001
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)	rs397514545	0.00001
NM_014254.3(RXYLT1):c.429-2A>G	rs199605239	0.00001
NM_014254.3(RXYLT1):c.795del (p.Arg266fs)	rs397514543	0.00001
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu)	rs397514544
NM_014254.3(RXYLT1):c.139del (p.Ala47fs)	rs397514696
NM_014254.3(RXYLT1):c.169+2T>C
NM_014254.3(RXYLT1):c.279del (p.Gly94fs)	rs397514546

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