ClinVar Miner

List of variants studied for X-linked Alport syndrome by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.141+1G>A rs2065509989
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter) rs368137679
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala) rs104886140
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) rs104886147
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter) rs1603290796
NM_033380.3(COL4A5):c.2039del (p.Pro680fs) rs2066627184
NM_033380.3(COL4A5):c.232-2A>G rs2065933012
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg) rs2067018186
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.3119_3120delinsA (p.Val1040fs) rs2067151490
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) rs2067822565
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) rs2068084185
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs) rs2068332131
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.465+2T>G rs2066070104
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs) rs2068717187
NM_033380.3(COL4A5):c.546+2T>G rs2066101487
NM_033380.3(COL4A5):c.834del (p.Gly279fs) rs2066227699
NM_033380.3(COL4A5):c.917del (p.Asn306fs) rs2066237678
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585

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