List of variants in gene ATXN7L3, UBTF studied for central nervous system malformation

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014233.4(UBTF):c.1871A>G (p.Lys624Arg)	rs1392411800	0.00001
NM_014233.4(UBTF):c.2040TGA[1] (p.Asp681del)
NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly)	rs2056307553
NM_014233.4(UBTF):c.2291A>C (p.Asn764Thr)
NM_014233.4(UBTF):c.403C>T (p.Pro135Ser)	rs2144550110
NM_014233.4(UBTF):c.442A>G (p.Lys148Glu)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014233.4(UBTF):c.649G>A (p.Val217Met)
NM_014233.4(UBTF):c.785_792delinsCTG (p.Asp262fs)	rs2144538635

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