ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
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.2183G>A (p.Gly728Glu) rs1603292422
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.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.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
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.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064

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