ClinVar Miner

List of variants studied for X-linked Alport syndrome by MGZ Medical Genetics Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
NM_033380.3(COL4A5):c.554C>G (p.Pro185Arg)
NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del)

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