ClinVar Miner

List of variants studied for Alport syndrome, autosomal recessive by Medical Genetics, University of Parma

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Total variants: 13
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HGVS dbSNP
NM_000091.5(COL4A3):c.2488_2488+2del
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.5(COL4A4):c.2717-5A>T rs1800519
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)

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