ClinVar Miner

List of variants reported as pathogenic for Alport syndrome 1, X-linked recessive by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 34
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HGVS dbSNP
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_033380.3(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
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.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.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.4747_4748CA[1] (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.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.567_568TA[1] (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

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