ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome by Fundacion Rioja Salud, Center for Biomedical Research (CIBIR)

Included ClinVar conditions (4):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu)	rs760462252	0.00001
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)	rs1057519377
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala)	rs1057519376

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