ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.1578del (p.Gly527fs) rs2059733367
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu) rs2060621902

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