ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive Alport syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (3):

Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria
Alport syndrome, autosomal recessive

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Total variants: 1

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HGVS	dbSNP
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg)	rs752452590

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