ClinVar Miner

List of variants reported as pathogenic for autosomal recessive Alport syndrome by Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])	rs756539994
NM_000092.4(COL4A4):c.1321_1369+3del	rs1553676221

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