ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)

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