List of variants reported as likely pathogenic for Bosch-Boonstra-Schaaf optic atrophy syndrome by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)	rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)	rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)	rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	rs587777276
Single allele

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