ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome by Medical Genetics, University of Parma

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	rs773515249	0.00001
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)	rs2073446714

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