List of variants studied for X-linked disease by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.185-1G>C	rs281865344
NM_000330.4(RS1):c.199_206dup (p.Gly70fs)	rs1927824776
NM_000330.4(RS1):c.366G>A (p.Trp122Ter)	rs61752147
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
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)	rs782581701
Single allele

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