List of variants reported as pathogenic for Isolated microphthalmia 3

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_013435.3(RAX):c.439C>T (p.Gln147Ter)	rs104894663	0.00002
NC_000018.9:g.(?_55217944)_(58040587_?)del
NM_013435.3(RAX):c.266del (p.Pro89fs)	rs2511488658
NM_013435.3(RAX):c.543+3A>G	rs2511488169
NM_013435.3(RAX):c.560G>A (p.Arg187Gln)	rs2070316408
NM_013435.3(RAX):c.575G>A (p.Arg192Gln)	rs121909127
NM_013435.3(RAX):c.664del (p.Ser222fs)	rs1603388837
NM_013435.3(RAX):c.909C>G (p.Tyr303Ter)	rs121909128

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