ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome by Institute of Human Genetics,Cologne University

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000091.4(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) rs1603293624
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs) rs1569508360
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424

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