ClinVar Miner

List of variants reported as pathogenic for Alport syndrome, autosomal recessive by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513

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