List of variants reported as pathogenic for choroideremia by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000390.4(CHM):c.1413+1G>T	rs1926202120
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	rs1603288832
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs)	rs1930439753
NM_000390.4(CHM):c.419del (p.Pro140fs)	rs1930438584
NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	rs1930431885
NM_000390.4(CHM):c.498_499dup (p.Leu167fs)	rs1930428430

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