List of variants reported as pathogenic for X-linked Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	rs104886111	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs)	rs1569492147
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg)	rs1569494304
NM_033380.3(COL4A5):c.1902del (p.Gly635fs)	rs1603290763
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter)	rs1603290796
NM_033380.3(COL4A5):c.2048del (p.Pro683fs)	rs1060499694
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)	rs104886163
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)	rs1603293570
NM_033380.3(COL4A5):c.2510-1G>T	rs770451831
NM_033380.3(COL4A5):c.2766del (p.Gly923fs)	rs886039890
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)	rs104886219
NM_033380.3(COL4A5):c.3247-1G>A	rs1569504056
NM_033380.3(COL4A5):c.3295del (p.Ser1099fs)	rs1603306718
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter)	rs1556439394
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter)	rs104886225
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)	rs1131691795
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter)	rs1603310370
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg)	rs104886235
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu)	rs1603310380
NM_033380.3(COL4A5):c.3487_3488delinsG (p.Pro1163fs)	rs1057516187
NM_033380.3(COL4A5):c.3604+2T>A	rs1569505613
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)	rs1556451235
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs)	rs1603318154
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs)	rs1603318143
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)	rs1603328025
NM_033380.3(COL4A5):c.4763del (p.Gln1588fs)	rs1057516203
NM_033380.3(COL4A5):c.4900_4903del (p.Pro1634fs)	rs886039886
NM_033380.3(COL4A5):c.569_570del (p.Ile190fs)	rs1556405010
NM_033380.3(COL4A5):c.687del (p.Gly230fs)	rs1556405926
NM_033380.3(COL4A5):c.834+2T>G	rs1569490932
NM_033380.3(COL4A5):c.835-2A>G	rs1556406859
NM_033380.3(COL4A5):c.875del (p.Gly292fs)	rs281874768

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