List of variants studied for X-linked Alport syndrome by Institute of Human Genetics, Cologne University

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg)	rs2147797143
NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)	rs1556411631
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr)	rs1114167369
NM_033380.3(COL4A5):c.1780-11T>A	rs2147813162
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala)	rs1603293624
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)	rs1569488426
NM_033380.3(COL4A5):c.3791-41A>G
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)
NM_033380.3(COL4A5):c.422G>A (p.Gly141Asp)
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter)	rs2147753940
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs)	rs1569508360
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)	rs1603323278
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)	rs104886424
NM_033380.3(COL4A5):c.965G>T (p.Gly322Val)	rs1569491399

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