ClinVar Miner

List of variants reported as uncertain significance for X-linked Alport syndrome by 3billion, Medical Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys)
NM_033380.3(COL4A5):c.2086G>C (p.Gly696Arg) rs2147820987
NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)
NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)
NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.609+5G>A
NM_033380.3(COL4A5):c.864G>A (p.Lys288=) rs1263254683
NM_033380.3(COL4A5):c.991-7T>A rs2147784245

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