List of variants in gene FOXE1 reported as uncertain significance for Bamforth-Lazarus syndrome

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)	rs538912281	0.00247
NM_004473.4(FOXE1):c.353C>T (p.Ala118Val)	rs149751469	0.00026
NM_004473.4(FOXE1):c.1087C>G (p.Pro363Ala)	rs200556187	0.00015
NM_004473.4(FOXE1):c.866C>G (p.Pro289Arg)	rs1324051960	0.00003
NM_004473.4(FOXE1):c.253G>T (p.Glu85Ter)
NM_004473.4(FOXE1):c.533C>T (p.Ala178Val)	rs1830638124

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