List of variants reported as uncertain significance for optic atrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	rs141878785	0.00064
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)	rs778455371	0.00002
NM_001098.3(ACO2):c.76C>T (p.Leu26=)	rs1057518832	0.00001
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
NC_012920.1:m.11443A>C	rs1556423952
NM_001098.3(ACO2):c.75C>T (p.Val25=)	rs1057518833

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