ClinVar Miner

List of variants in gene COL4A1 reported as pathogenic by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.6(COL4A1):c.1509del (p.Gly504fs) rs1594566006
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2345-2A>G
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp) rs2139163087
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.324+1G>A rs1085307816
NM_001845.6(COL4A1):c.3556+1G>T rs1555302645
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu) rs2139156207
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070

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