ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome 1, X-linked recessive by Mendelics

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Total variants: 4
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HGVS dbSNP
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131

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