ClinVar Miner

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

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Total variants: 81
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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.1129G>A (p.Gly377Arg) rs1603286154
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.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
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.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2245-3A>G rs1603293513
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.2510-1G>T rs770451831
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2766del (p.Gly923fs) rs886039890
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3247-1G>A rs1569504056
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
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.3455-8T>G rs1569505503
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.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3604+2T>A rs1569505613
NM_033380.3(COL4A5):c.3808+17G>A rs1603312557
NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del) rs1556451235
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.4197_4200delinsGGG (p.Pro1401fs) rs1603318154
NM_033380.3(COL4A5):c.4197del (p.Gly1400fs) rs1603318143
NM_033380.3(COL4A5):c.4200A>G (p.Gly1400=) rs1603318167
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
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.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567
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.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.567_568TA[1] (p.Ile190fs) rs1556405010
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.834+2T>G rs1569490932
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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