ClinVar Miner

List of variants reported as likely pathogenic for X-linked Alport syndrome by 3billion, Medical Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser) rs2147788213
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) rs104886107
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg) rs104886174
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg) rs2147849915
NM_033380.3(COL4A5):c.2474del (p.Gly825fs)
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) rs104886363
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) rs1569498896
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)
NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs) rs2147959089
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys)
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) rs104886059
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) rs1569490592
NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)
NM_033380.3(COL4A5):c.891_891+1del
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu) rs1556407064
NM_033380.3(COL4A5):c.938del

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