ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Alport syndrome by Baylor Genetics

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.1262del (p.Gly421fs)	rs2125972772
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	rs1553755124
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)	rs1469479748

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