ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000092.4(COL4A4):c.2638_2639delGC (p.Ala880Thrfs) rs1553641611
NM_000495.4(COL4A5):c.1483dup (p.Gln495Profs) rs1556411631

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