ClinVar Miner

List of variants reported as pathogenic for Alport syndrome by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs) rs2072585319
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys) rs2060086619
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs) rs1976337637
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) rs1973758214
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) rs1963402519
NM_000092.5(COL4A4):c.4508del (p.His1503fs) rs1963379793
NM_000092.5(COL4A4):c.558+1G>A rs2061393783
NM_000092.5(COL4A4):c.559-2A>C rs766243664
NM_000092.5:c.1205_1369del
NM_033380.3(COL4A5):c.141+1G>A rs2065509989
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter) rs368137679
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.3119_3120delinsA (p.Val1040fs) rs2067151490
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) rs2068084185
NM_033380.3(COL4A5):c.3920del (p.Asp1307fs) rs2068332131
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.465+2T>G rs2066070104
NM_033380.3(COL4A5):c.4925_4986del (p.Gly1642fs) rs2068717187
NM_033380.3(COL4A5):c.546+2T>G rs2066101487
NM_033380.3(COL4A5):c.917del (p.Asn306fs) rs2066237678

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