List of variants reported as pathogenic for Bamforth-Lazarus syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004473.4(FOXE1):c.304C>T (p.Arg102Cys)	rs104894111	0.00001
NM_004473.4(FOXE1):c.145dup (p.Leu49fs)
NM_004473.4(FOXE1):c.170G>A (p.Ser57Asn)	rs28937575
NM_004473.4(FOXE1):c.194C>T (p.Ala65Val)	rs104894110

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