List of variants reported as uncertain significance for Optic nerve hypoplasia by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)	rs34004222	0.00274
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)	rs200735885	0.00161
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)	rs201058867	0.00016
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)	rs762408881
NM_057157.2:c.1184T>C

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