ClinVar Miner

List of variants studied for X-linked Alport syndrome by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2678-1G>T
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr) rs2147991674
NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp)
NM_033380.3(COL4A5):c.4745T>C (p.Val1582Ala) rs2148001550

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