List of variants in gene SELENON reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	rs121908185	0.00006
NM_020451.3(SELENON):c.1A>G (p.Met1Val)	rs121908184	0.00005
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	rs377215510	0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)	rs978886878	0.00002
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	rs199564797	0.00001
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	rs1557813850
NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	rs886041584
NM_020451.3(SELENON):c.1289dup (p.Tyr430Ter)	rs1553120678
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	rs1553198611
NM_020451.3(SELENON):c.683_689dup (p.Met230fs)	rs1553120055
NM_020451.3(SELENON):c.713dup (p.Asn238fs)	rs368104077
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	rs886041686
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	rs886041619

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