ClinVar Miner

List of variants reported as likely pathogenic for hematuria, benign familial, 1 by Department of Clinical Genetics, Medical University of Lodz

Included ClinVar conditions (3):

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_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)	rs368404711	0.00010
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)	rs1189502123	0.00001
NM_000092.5(COL4A4):c.974del (p.Lys325fs)

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