ClinVar Miner

List of variants in gene COL4A1 reported as pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.6(COL4A1):c.324+1G>A rs1085307816
NM_001845.6(COL4A1):c.3556+1G>T rs1555302645
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714

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