ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000495.5(COL4A5):c.1132_1138del (p.Ile378fs) rs1569492147
NM_000495.5(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_000495.5(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_000495.5(COL4A5):c.1708G>A (p.Gly570Arg)
NM_000495.5(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_000495.5(COL4A5):c.1843G>A (p.Gly615Arg) rs1569494304
NM_000495.5(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_000495.5(COL4A5):c.2048del (p.Pro683fs) rs1060499694
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.2183G>A (p.Gly728Glu)
NM_000495.5(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.5(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_000495.5(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_000495.5(COL4A5):c.2587G>A (p.Gly863Ser)
NM_000495.5(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_000495.5(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_000495.5(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_000495.5(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_000495.5(COL4A5):c.2766del (p.Gly923fs) rs886039890
NM_000495.5(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_000495.5(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.5(COL4A5):c.3247-1G>A rs1569504056
NM_000495.5(COL4A5):c.3314T>A (p.Leu1105Ter) rs1556439394
NM_000495.5(COL4A5):c.3319G>T (p.Gly1107Ter)
NM_000495.5(COL4A5):c.3455-8T>G rs1569505503
NM_000495.5(COL4A5):c.3475C>T (p.Gln1159Ter)
NM_000495.5(COL4A5):c.3481G>C (p.Gly1161Arg)
NM_000495.5(COL4A5):c.3482G>A (p.Gly1161Glu)
NM_000495.5(COL4A5):c.3487_3488delinsG (p.Pro1163fs) rs1057516187
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_000495.5(COL4A5):c.3604+2T>A rs1569505613
NM_000495.5(COL4A5):c.3801_3863del (p.Pro1268_Gly1288del) rs1556451235
NM_000495.5(COL4A5):c.3924G>A (p.Gln1308=) rs281874724
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4568T>C (p.Ile1523Thr) rs749580257
NM_000495.5(COL4A5):c.4688+4A>C rs1569508999
NM_000495.5(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.5(COL4A5):c.4745del (p.Gln1582fs) rs1057516203
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.5(COL4A5):c.4882_4885del (p.Pro1628fs) rs886039886
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_000495.5(COL4A5):c.567_568TA[1] (p.Ile190fs) rs1556405010
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.5(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_000495.5(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_000495.5(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_000495.5(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_000495.5(COL4A5):c.834+2T>G rs1569490932
NM_000495.5(COL4A5):c.835-2A>G rs1556406859
NM_000495.5(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_000495.5(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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