List of variants reported as likely pathogenic for X-linked disease by Institute of Human Genetics, Cologne University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)	rs1557236729
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)
NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter)	rs2124413117
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg)	rs2147797143
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala)	rs1603293624
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter)	rs2147753940
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs)	rs1569508360
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)	rs104886424

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