ClinVar Miner

List of variants in gene COL4A1 reported as pathogenic for Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

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Total variants: 6
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NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106

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