ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome, autosomal recessive by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 18
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HGVS dbSNP
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
NM_000091.5(COL4A3):c.4649T>G rs200655479
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
NM_000091.5(COL4A3):c.725G>A rs1574699806
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
NM_000092.5(COL4A4):c.4334-23A>G
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)

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