ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome, autosomal recessive by Institute of Human Genetics, Klinikum rechts der Isar

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Total variants: 8
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HGVS dbSNP
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2126-1G>C
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125

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