ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome, autosomal recessive by Precision Medicine Center,Zhengzhou University

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Total variants: 6
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NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)

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