ClinVar Miner

List of variants studied for Alport syndrome, autosomal recessive by Mendelics

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Total variants: 5
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NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782

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