ClinVar Miner

List of variants studied for Alport syndrome, autosomal recessive by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 14
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NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.594+1G>A rs1553690565

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