ClinVar Miner

List of variants reported as uncertain significance for Alport syndrome, autosomal recessive by Nilou-Genome Lab

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Total variants: 14
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NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2636del (p.Pro879fs)
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
NM_000092.5(COL4A4):c.2594del (p.Pro865fs)
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=)
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)

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