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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