ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 16
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HGVS dbSNP
NM_001845.6(COL4A1):c.1108C>T (p.Pro370Ser) rs773419047
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.6(COL4A1):c.1781C>T (p.Pro594Leu) rs1555304117
NM_001845.6(COL4A1):c.1897+7C>G rs773791331
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870
NM_001845.6(COL4A1):c.3178C>T (p.Pro1060Ser) rs886044336
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524
NM_001845.6(COL4A1):c.4764C>G (p.Ser1588Arg) rs779680003
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989

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