ClinVar Miner

List of variants in gene COL4A1 reported as likely pathogenic by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903

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