ClinVar Miner

List of variants reported as uncertain significance for X-linked Alport syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130

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