ClinVar Miner

List of variants in gene COL4A1 studied for Inborn genetic diseases

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Total variants: 11
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HGVS dbSNP
NM_001845.4(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.4(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.5(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.5(COL4A1):c.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.5(COL4A1):c.3067G>A (p.Gly1023Arg) rs1555302942
NM_001845.5(COL4A1):c.3499G>A (p.Glu1167Lys) rs1555302739
NM_001845.5(COL4A1):c.3505+1G>A rs1555302735
NM_001845.5(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001845.5(COL4A1):c.3941G>A (p.Gly1314Glu) rs1555301943
NM_001845.5(COL4A1):c.4540G>A (p.Ala1514Thr) rs1555301346
NM_001845.5(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086

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