ClinVar Miner

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

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Total variants: 10
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COL4A3, 5-BP DEL, NT4414
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862

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