ClinVar Miner

List of variants reported as pathogenic for Alport syndrome, autosomal recessive by Counsyl

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Total variants: 15
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NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861

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