ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome by Yale Center for Mendelian Genomics, Yale University

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_033380.3(COL4A5):c.2692A>G (p.Met898Val)	rs104886192	0.00017
NM_033380.3(COL4A5):c.1423+1G>T	rs104886312
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189

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