List of variants studied for Alport syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	rs869025328	0.00001
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)	rs757877136	0.00001
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	rs772958162
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	rs1175052474
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)	rs2073096212
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)	rs2069931154
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)	rs2070035662
NM_033380.3(COL4A5):c.1033-1G>A	rs2066339336
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)	rs104886153
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)	rs1369565068
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)	rs2066011284
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)	rs1556445736
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)	rs104886060
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)	rs104886086

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